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Journal of Inborn Errors of Metabolism & Screening

中文名称：代谢与筛查先天性错误杂志

ISSN：2326-4098
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发文量：150

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1.Arginine and Citrulline for the Treatment of MELAS Syndrome

机译：精氨酸和瓜氨酸治疗MELAS综合征
- 作者：Mohammed Almannai;Ayman W. El-Hattab;Fernando Scaglia
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第7期
- stroke-like episodesnitric oxide (NO)mitochondrial diseasesstable isotopeencephalomyopathylactic acidosis;
2.Validation of a Multiplex Tandem Mass Spectrometry Method for the Detection of Selected Lysosomal Storage Diseases in Dried Blood Spots

机译：多重串联质谱方法在干血斑中选择的溶酶体贮积病检测中的验证
- 作者：Carmen Regla Vargas;Maira Graeff Burin;Jurema Fátima De Mari;Graziela Schmitt Ribas;Heryk Motta de Souza;Gabriel Civallero;Roberto Giugliani
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第7期
- lysosomal storage diseasesmultiplex enzyme assaytandem mass spectrometry;
3.Editorial Letter to Special Issue on Phenylketonuria

机译：致苯丙酮尿症特刊的社论信
- 作者：Verónica Cornejo
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第7期
4.Alternative Therapies for PKU

机译：北大的替代疗法
- 作者：Norma Spécola;Ana Chiesa
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第7期
- phenylketonurianew treatmentadherenceglycomacropeptideBH4PAL;
5.Hampered Vitamin B12 Metabolism in Gaucher Disease?

机译：戈谢病中维生素B12代谢受阻？
- 作者：Luciana Hannibal;Henk J. Blom;Filippo Vario;Marina Siebert;Ute Spiekerkoetter;Suélen Basgalupp
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第7期
- Gaucher diseasevitamin B12lysosomal diseasehomocysteinemethylmalonic acidtranscobalaminlysosomal traffickingpolyneuropathycobalaminenzyme replacement therapy;
6.Chilean Nutrition Management Protocol for Patients With Phenylketonuria

机译：苯丙酮尿症患者的智利营养管理协议
- 作者：Gabriela Castro;Valerie Hamilton;Verónica Cornejo
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第7期
7.Newborn Screening for Lysosomal Storage Disorders in Belgium The Importance of Sex- and Age-Dependent Reference Ranges

机译：比利时溶酶体贮积病的新生儿筛查性别和年龄相关参考范围的重要性
- 作者：Francois Eyskens;Sylvie Devos
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第7期
8.Late Breaking News Abstracts Accepted for Presentation at the 13th International Congress of Inborn Errors of Metabolism (September 5-8, Rio de Janeiro, Brazil)

机译：最新新闻摘要在第13届国际先天性代谢错误国际大会上接受演讲（9月5日至8日，巴西里约热内卢）
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第7期
9.Islet Insulin Secretion, ???2-Cell Mass, and Energy Balance in a Polygenic Mouse Model of Type 2 Diabetes With Obesity

机译：肥胖的2型糖尿病多基因小鼠模型中的胰岛胰岛素分泌，2细胞质量和能量平衡
- 作者：Arnold M. Saxton;Michael F. McEntee;Xia Mao;Jung Han Kim;Kristy D. Dillon
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2014年第12期
- geneticstype 2 diabetesobesity?2-cell massenergy balanceinsulin secretionmice;
10.The Burden Endured by Caregivers of Patients With Morquio A Syndrome Results From an International Patient-Reported Outcomes Survey

机译：一项国际患者报告的结果调查结果显示，患有Morquio A综合征的患者的照料者承受的负担
- 作者：Mohit Jain;Sema Kalkan Ucar;Christina Lampe;Lisa Bell;Mahmut Coker;Christian J. Hendriksz;Christine Lavery
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2014年第12期
11.The Burden Endured by Caregivers of Patients With Morquio A Syndrome Results From an International Patient-Reported Outcomes Survey

机译：一项国际患者报告的结果调查结果显示，患有Morquio A综合征的患者的照料者承受的负担
- 作者：Mohit Jain;Sema Kalkan Ucar;Christina Lampe;Lisa Bell;Mahmut Coker;Christian J. Hendriksz;Christine Lavery
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2014年第12期
- Morquio A syndromemucopolysaccharidosis IVcaregiversdisease burdenquality of lifewheelchairs;
12.Vertebrobasilar Dolichoectasia in Fabry Disease The Earliest Marker of Neurovascular Involvement?

机译：Fabry病中的椎基底干线虫病是神经血管参与的最早标志？
- 作者：Mariana Blanco;Gustavo Cabrera;Alessandro Burlina;Andrea Beatriz Schenone;Sebastian Lescano;Juan Politei;Marina Szlago
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2014年第12期
- Fabry diseasevertebrobasilar dolichoectasiastrokeFabry MRIbrain ischemia;
13.A Case of Type I Sialidosis With Osteonecrosis Revealing a New Mutation in NEU1

机译：一例伴骨坏死的I型唾液中毒揭示了NEU1的新突变
- 作者：Christian Lavigne;Magalie Barth;Christophe Verny;Geoffrey Urbanski;Soumeya Bekri
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2014年第12期
- sialidosisbone involvementNEU1;
14.Lysosomal Storage Diseases

机译：溶酶体贮积病
- 作者：Jeremiah A. Lyons;Joseph Alroy
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2014年第12期
15.Vertebrobasilar Dolichoectasia in Fabry Disease The Earliest Marker of Neurovascular Involvement?

机译：Fabry病中的椎基底干线虫病是神经血管参与的最早标志？
- 作者：Mariana Blanco;Gustavo Cabrera;Alessandro Burlina;Andrea Beatriz Schenone;Sebastian Lescano;Juan Politei;Marina Szlago
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2014年第12期
16.Identification and Clinical Characterization of a Novel Alpha-Galactosidase A Mutation

机译：新型α-半乳糖苷酶A突变的鉴定和临床表征
- 作者：Nilton Salles Rosa Neto
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2014年第12期
- Fabry diseasemissense mutationalpha-galactosidase Aaseptic meningitissmall-fiber neuropathy;
17.Lysosomal Storage Diseases

机译：溶酶体贮积病
- 作者：Jeremiah A. Lyons;Joseph Alroy
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2014年第12期
- lysosome functionthe etiology of the diseasesclinical manifestationsdiagnostic tools;
18.A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome)

机译：SRD5A3中的新型错义突变导致先天性糖基化I型（小脑-眼综合征）
- 作者：Yosra Bejaoui;Mohammed Tolefat;Yasser Al-Sarraj;Marios Kambouris;Hatem El-Shanti;Tawfeg Ben-Omran
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2014年第12期
- congenital glycosylation disorder type ISRD5A3 genehomozygositymappingnext-generation exome sequencingcerebello-ocular syndrome;
19.Inborn Errors of Intermediary Metabolism in Critically Ill Mexican Newborns

机译：墨西哥严重危重新生儿的中间代谢的先天性错误
- 作者：Vela-Amieva Marcela;Ibarra-González Isabel;Fernández-Lainez Cynthia;Reyes-González Diana I;Monroy-Santoyo Susana;Guillén-López Sara;Belmont-Martínez Leticia
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2014年第12期
- inborn errors of metabolismneonatal intensive care unitneonatal mortalitynewborn screeningneonates;
20.Abstracts of Free Communications Accepted for Presentation at the 13th International Symposium on Mucopolysaccharidoses and Related Diseases, Sauipe, Bahia, Brazil, August 13-17, 2014

机译：2014年8月13日至17日在巴西巴伊亚州索皮耶举行的第13届粘多糖和相关疾病国际研讨会上接受了免费交流摘要
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2014年第12期
21.Consanguinity and Geographic Origin of Patients With Autosomal Recessive Metabolic Disorders Evaluated in a Reference Service in Campinas, Brazil

机译：在巴西坎皮纳斯的参考服务中心评估常染色体隐性代谢紊乱患者的血缘和地理起源
- 作者：Carlos Eduardo Steiner;Cristiano Guimar?es Kozuki
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2015年第12期
22.Relationship Between Patient-Reported Outcomes and Clinical Outcomes in Patients With Morquio A Syndrome

机译：Morquio A综合征患者的报告结果与临床结果之间的关系
- 作者：Christina Lampe;Mohit Jain;Celeste Decker;Eugen Mengel;Bianca Meesen;Andrew Olaye
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2015年第12期
- Morquio Amucopolysaccharidosis IVpatient-reported outcomesquality of lifeEQ5D-5Lpatienta??s perception6MWT3MSC testFVCmaximal voluntary ventilationmobilityphysical endurancerespiratory function tests;
23.Consanguinity and Geographic Origin of Patients With Autosomal Recessive Metabolic Disorders Evaluated in a Reference Service in Campinas, Brazil

机译：在巴西坎皮纳斯的参考服务中心评估常染色体隐性代谢紊乱患者的血缘和地理起源
- 作者：Carlos Eduardo Steiner;Cristiano Guimar?es Kozuki
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2015年第12期
- consanguinityautosomal recessiveinborn errors of metabolismmetabolic disordersBrazil;
24.Urinary Glycosaminoglycan Electrophoresis With Optimized Keratan Sulfate Separation Using Peltier System for the Screening of Mucopolysaccharidoses

机译：利用珀尔帖系统优化尿酸角质素硫酸盐分离的尿糖胺聚糖电泳筛选黏多糖多糖酶
- 作者：Mihriban Tijen Tanyalcin
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2015年第12期
25.Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals

机译：苯丙酮尿症和健康个体杂合子中苯丙氨酸和酪氨酸代谢分析
- 作者：Cléber Cruz;Luiz Silva;Roseani Andrade;Adriana Bastos;Vaneisse Monteiro;Carla Silva
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2015年第12期
26.A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome

机译：儿童和成人亨特综合征患者的脑脊液收集研究
- 作者：Ann J. Barbier;Joseph Muenzer;Arian Pano;Hicham Naimy;Barbara K. Burton;Nan Wang;Christian J. Hendriksz;Luying Pan
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2015年第12期
- cerebrospinal fluidglycosaminoglycan levelslumbar puncturemucopolysaccharidosis IIcognitive impairment;
27.The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina Genotype, Experiences, Anecdotes, and New Learnings

机译：诊断阿根廷法布里病患者的连续挑战基因型，经验，轶事和新知识
- 作者：Paula A Rozenfeld;Norma Roa;Romina Ceci;Isaac Kisinovsky
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2015年第12期
- Fabry disease?±-galactosidase A deficiencygenotypediagnosislysosomal diseases;
28.Obstructive Sleep Apnea in MPS A Systematic Review of Pretreatment and Posttreatment Prevalence and Severity

机译：MPS阻塞性睡眠呼吸暂停治疗前和治疗后患病率和严重性的系统评价
- 作者：Iain A. Bruce;Abhijit Ricky Pal;Brian W. Bigger;Simon A. Jones;Nailah Brown
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2015年第12期
- adenotonsillectomyairway obstructioncontinuous positive airways pressurelysosomal storage diseasesmucopolysaccharidosisobstructive sleep apneapolysomnographysleep disordered breathing;
29.Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals

机译：苯丙酮尿症和健康个体杂合子中苯丙氨酸和酪氨酸代谢分析
- 作者：Cléber Cruz;Luiz Silva;Roseani Andrade;Adriana Bastos;Vaneisse Monteiro;Carla Silva
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2015年第12期
- inborn errors of metabolismheterozygotesphenylalanineoverload;
30.Identification of a Novel TAZ Gene Mutation in a Family With X-Linked Dilated Cardiomyopathy Barth Syndrome

机译：X连锁扩张型心肌病巴氏综合征的家庭中新型TAZ基因突变的鉴定。
- 作者：Yogesh Srivastava;Renu Saxena;Sunita Bijarnia-Mahay;Minal Borkar;Monica Juneja;Sudha Kohli;Ishwar C. Verma
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2015年第12期
- Barth syndromeTAZ geneIndiaprenatal diagnosisbioinformatic analyses;
31.Mucopolysaccharidosis VI Evaluation After 2 Years of Treatment

机译：治疗2年后粘多糖贮积症VI评估
- 作者：Andrea Beatriz Schenone;Cabrera Gustavo;Szlago Marina;Antacle Alejandra;Juan Politei
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2015年第12期
- spinal compressiongalsulfaseglycosaminoglycansdermatan sulfatemucopolysaccharidosis VI;
32.Evaluation of TSH Levels in the Program of Congenital Hypothyroidism Newborn Screening in a Pilot Study of Preterm Newborns in Bogot????, Colombia

机译：在哥伦比亚波哥大的早产儿试验研究中，先天性甲状腺功能减退症新生儿筛查计划中TSH水平的评估
- 作者：J. C. Prieto;L. Mora;F. Suárez-Obando;P. Sánchez;Gustavo Adolfo Giraldo
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2015年第12期
- hypothyroidismpreterm neonatesfull-term neonatesrescreeningTSH;
33.Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, Overexpressed NPC1 Allele

机译：成年患者中有1种突变，过表达的NPC1等位基因的独特C型Niemann-Pick疾病的临床，细胞学和生化表型
- 作者：Milos Hejtman;Regina Katzenschlager;Stefanie Beck-W?dl;Klaus Harzer;Julia Jecel;Peter Bauer;Eduard Paschke
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2015年第12期
- Niemann-Pick disease type Cbone marrow storage cellsallele overexpressioncholesterol storageheterozygous manifestation;
34.Impact of CPS1 Gene rs7422339 Polymorphism in Argentine Patients With Hyperhomocysteinemia

机译：CPS1基因rs7422339多态性对阿根廷高同型半胱氨酸血症患者的影响
- 作者：Silene M. Silvera-Ruiz;Laura E. Laróvere;Carola L. Grosso;Raquel Dodelson De Kremer
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2015年第12期
- hyperhomocysteinemiacarbamoyl phosphate synthetase 1polymorphismargentine populationCPS1 T1405N;
35.Adherence to Treatment of Phenylketonuria A Study in Southern Brazilian Patients

机译：坚持治疗苯丙酮尿症巴西南部患者的一项研究
- 作者：Tatiane Alves Vieira;Tatiéle Nalin;Camila Matzenbacher Bittar;Cristina Brinckmann Oliveira Netto;Bárbara Correa Krug;Ida Vanessa Doederlein Schwartz
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2015年第12期
- phenylketonuriaadherence to treatmentinborn errors of metabolism;
36.BOOK OF ABSTRACTS - X Latin American Congress of Inborn Errors of Metabolism and Neonatal Screening

机译：摘要摘要-X拉丁美洲先天性代谢错误和新生儿筛查大会
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2015年第12期
37.Urinary Glycosaminoglycan Electrophoresis With Optimized Keratan Sulfate Separation Using Peltier System for the Screening of Mucopolysaccharidoses

机译：利用珀尔帖系统优化尿酸角质素硫酸盐分离的尿糖胺聚糖电泳筛选黏多糖多糖酶
- 作者：Mihriban Tijen Tanyalcin
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2015年第12期
- keratan sulfateglycosaminoglycansmucopolysaccharidosesglycosaminoglycan electrophoresiscellulose acetate;
38.Mucopolysaccharidosis Caregiver Quality of Life

机译：粘多糖贮积症护理者的生活质量
- 作者：Mariana Dumer Borges;Matheus Vernet Machado Bressan Wilke;Nicole Ruas Guarany;Ana Paula Vanz;Daniele Dorneles Bender;Roberto Giugliani;Ida Vanessa Doederlein Schwartz
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2015年第12期
- mucopolysaccharidosesquality of lifecaregiversdaily activitiesdisabilities;
39.???2-Galactosidase Deficiency in Colombia Report of 20 Patients Detected Using Dried Blood Spot Samples

机译：哥伦比亚2-半乳糖苷酶缺乏症使用干血斑样本检测到20例患者的报告
- 作者：Monica Espa?a;Natalia Pacheco;Lina M. Jay Garcia;Adis Ayala;Isidro Arevalo;Alfredo Uribe
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2015年第12期
- ?2-galactosidaseGM1 gangliosidosisMorquio Bleukocytesdried blood spot;
40.Enzyme Replacement Therapy With Elosulfase Alfa Decreases Storage of Glycosaminoglycan in White Blood Cells of Patients With Morquio A Syndrome

机译：硫磺酶Alfa的酶替代治疗可减少Morquio A综合征患者白细胞中糖胺聚糖的储存
- 作者：Fernanda Bender;Roberto Giugliani;Camila Bittar;Fabiano Poswar;Andressa Federhen;Guilherme Baldo;Rejane Gus
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2015年第12期
- Morquio Amucopolysaccharidosis IVAenzyme replacement therapyelosulfase alfa;
41.Identification of a Novel TAZ Gene Mutation in a Family With X-Linked Dilated Cardiomyopathy Barth Syndrome

机译：X连锁扩张型心肌病巴氏综合征的家庭中新型TAZ基因突变的鉴定。
- 作者：Yogesh Srivastava;Renu Saxena;Sunita Bijarnia-Mahay;Minal Borkar;Monica Juneja;Sudha Kohli;Ishwar C. Verma
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2015年第12期
42.A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome

机译：儿童和成人亨特综合征患者的脑脊液收集研究
- 作者：Ann J. Barbier;Joseph Muenzer;Arian Pano;Hicham Naimy;Barbara K. Burton;Nan Wang;Christian J. Hendriksz;Luying Pan
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2015年第12期
43.Incidence of Inborn Errors of Metabolism by Expanded Newborn Screening in a Mexican Hospital

机译：墨西哥医院扩大新生儿筛查的先天性代谢错误发生率。
- 作者：Héctor Javier González;Consuelo Cantú-Reyna;Mercedes Vázquez-Cantú;Santiago Benavides;Héctor Cruz-Camino;René Montemayor;Luis Manuel Zepeda
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第12期
44.Update on Coronary Involvement in Fabry Disease

机译：法布里病冠状动脉介入的最新进展
- 作者：Gustavo Cabrera
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第12期
45.The Role of Technology in the Neonatal Screening Laboratory

机译：技术在新生儿筛查实验室中的作用
- 作者：Víctor R. De Jesús
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第12期
46.Microbial Profile of Supragingival and Subgingival Plaque of Patients With Glycogen Storage Disease

机译：糖原贮积病患者龈上和龈下菌斑的微生物谱
- 作者：Chealsea E. Garcia;Abimbola O. Adewumi;David A. Weinstein;Hong Huang;Marcelle M. Nascimento;Luciana M. Shaddox;Yan Gong
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第12期
- glucose storage diseaseoral microbiomedental plaquecariesperiodontal diseasenext-generation sequencing.;
47.The Kidney in Fabry Disease More Than Mere Sphingolipids Overload

机译：法比病中的肾脏不仅仅是鞘脂超负荷
- 作者：Hernán Trimarchi
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第12期
- Fabry diseaseglobotriaosylceramidepodocytenitric oxideangiotensin II;
48.An Adaptation of the Profile of Mood States for Use in Adults With Phenylketonuria

机译：成人苯丙酮尿症患者情绪状态概况的改编
- 作者：Katharine S. Gries;Haoling H. Weng;Laurel Konkol;Markus J. Merilainen;Kathleen W. Wyrwich;Yinpu Chen;Elizabeth D. Bacci;Rishabh Jain
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第12期
- phenylketonuriaprofile of mood statespatient-reported outcomepsychometricitem reductioncognitive interview;
49.Beta-Ketothiolase Deficiency Resolving Challenges in Diagnosis

机译：β-酮硫解酶缺乏症在诊断中的挑战
- 作者：Hiroki Otsuka;Hideo Sasai;Elsayed Abdelkreem;Mohamed Abd El Aal;Yuka Aoyama;Shaimaa Mahmoud;Toshiyuki Fukao;Tomohiro Hori
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第12期
- beta-ketothiolase deficiencydiagnosischallengesscreeningmanagement;
50.Technological Journey From Colorimetric to Tandem Mass Spectrometric Measurements in the Diagnostic Investigation for Phenylketonuria

机译：从比色法到串联质谱法在苯丙酮尿症诊断研究中的技术历程
- 作者：Donald H. Chace;William H. Hannon
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第12期
- PKUamino acidsMS/MSphenylalaninenewborn screening;
51.Lysosome The Story Beyond the Storage

机译：溶酶体储存之外的故事
- 作者：Gabriela Pasqualim;Ursula Matte
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第12期
- lysosomal biologyautophagylysosomal disorderslysosomal cell death;
52.Small Molecules Substrate Inhibitors, Chaperones, Stop-Codon Read Through, and Beyond

机译：小分子底物抑制剂，伴侣分子，终止密码子通读及以后
- 作者：Saida Ortolano
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第12期
- lysosomal storage disorderssubstrate reduction therapypharmacological chaperonesstop-codon read throughcotreatment with enzyme replacement therapy;
53.Cardiac Manifestation of Fabry Disease From Hypertrophic Cardiomyopathy to Early Diagnosis and Treatment in Patients Without Left Ventricular Hypertrophy

机译：法布里病从肥厚型心肌病的心脏表现到无左心室肥厚的患者的早期诊断和治疗
- 作者：Adrián Fernández;Juan Politei
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第12期
- Fabry diseasehypertrophic cardiomyopathyenzyme replacement therapylysosomal GL-3 accumulationcardiac involvement;
54.New Aspects of LSD Pathophysiology, Diagnosis, and Treatment

机译：LSD病理生理学，诊断和治疗的新方面
- 作者：Michael Beck
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第12期
55.Late Diagnosis of Fanconi-Bickel Syndrome Challenges With the Diagnosis and Literature Review

机译：Fanconi-Bickel综合征挑战的晚期诊断与诊断并文献复习
- 作者：Lawrence R. Shoemaker;Nirupama Gupta;David A. Weinstein;Bimota Nambam
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第12期
- Fanconi-Bickel syndromefailure to thriveglycogen storage diseaseGLUT 2 mutationproximal renal tubulopathy;
56.Editorial Letter to Special Issue Fabry Disease

机译：致特刊法布里病的社论信
- 作者：Juan Politei
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第12期
57.New Aspects of LSD Pathophysiology, Diagnosis, and Treatment

机译：LSD病理生理学，诊断和治疗的新方面
- 作者：Michael Beck
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第12期
58.Evaluation of the Genetic Screening Processor for the Performance of Newborn Screening Tests

机译：遗传筛查处理器对新生儿筛查测试性能的评估
- 作者：Simone Martins de Castro;Letícia Filippon;André C. Souza;Raquel Weber
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第12期
- newborn screeningGSPvalidationIRTNTSH17OHP;
59.Mitochondrial Disease and Anesthesia

机译：线粒体疾病和麻醉
- 作者：Philip G. Morgan;Vincent C. Hsieh;Elliot J. Krane
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
60.Nutritional Status and Body Composition in Patients With Hepatic Glycogen Storage Diseases Treated With Uncooked Cornstarch?￠????A Controlled Study

机译：未经煮熟的玉米淀粉治疗肝糖原贮积病患者的营养状况和身体组成—对照研究
- 作者：Bruna B. dos Santos;Lilia F. Refosco;Tatiéle Nalin;Filippo P. Vairo;Carolina F. M. Souza;Kamila C. Grokoski;Ida V. D. Schwartz;Ingrid D. S. Perry
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
- hepatic glycogen storage diseasesnutritional statusbody compositionadipositybioelectrical impedance;
61.Glycogen Storage Diseases Next-Generation Medicine

机译：糖原贮积病下一代医学
- 作者：Terry G. J. Derks;Carolina Fischinger Moura de Souza
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
62.Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I

机译：糖原贮积病I型肺动脉高压
- 作者：Priya S. Kishnani;Stephanie L. Austin;Stephanie B. Wechsler;Rachel D. Torok;Lisa K. Britt;Jose E. Abdenur
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
- glycogen storage disease type Ipulmonary arterial hypertensionechocardiographysildenafil;
63.Coenzyme Q 10 in the Treatment of Mitochondrial Disease

机译：辅酶Q 10在线粒体疾病的治疗中
- 作者：Delia Yubero;Annapurna Chalasani;Iain Hargreaves;Viruna Neergheen;Rafael Artuch;Luke Wainwright;Raquel Montero
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
- coenzyme Q 10mitochondrial respiratory chain (MRC)oxidative stressantioxidant;
64.Isolated and Combined Remethylation Disorders Biochemical and Genetic Diagnosis and Pathophysiology

机译：分离和合并的重甲基化疾病生化和遗传诊断与病理生理学
- 作者：Bego?a Merinero;Magdalena Ugarte;Lourdes R. Desviat;Rosa Navarrete;María Jesús Ecay;Belén Pérez;Ana Vega;Celia Pérez-Cerda;Eva Richard;Sandra Brasil;Fátima Leal
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
- remethylation disordersoxidative stressmassive parallel sequencinghomocysteinevitamin B 12;
65.Gene Therapy for Lysosomal Storage Disorders Recent Advances and Limitations

机译：基因治疗溶酶体贮积症的最新进展和局限性
- 作者：Guilherme Baldo;Esteban Alberto Gonzalez
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
66.Validation of a Multiplex Tandem Mass Spectrometry Method for the Detection of Selected Lysosomal Storage Diseases in Dried Blood Spots

机译：多重串联质谱方法在干血斑中选择的溶酶体贮积病检测中的验证
- 作者：Carmen Regla Vargas;Maira Graeff Burin;Jurema Fátima De Mari;Graziela Schmitt Ribas;Heryk Motta de Souza;Gabriel Civallero;Roberto Giugliani
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
67.Coenzyme Q 10 in the Treatment of Mitochondrial Disease

机译：辅酶Q 10在线粒体疾病的治疗中
- 作者：Delia Yubero;Annapurna Chalasani;Iain Hargreaves;Viruna Neergheen;Rafael Artuch;Luke Wainwright;Raquel Montero
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
68.Use of Idebenone for the Treatment of Leber?￠????s Hereditary Optic Neuropathy Review of the Evidence

机译：艾地苯醌治疗Leber遗传性视神经病变的证据
- 作者：Thomas Klopstock;Claudia B. Catarino
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
- LHONcomplex Irespiratory chainoxidative phosphorylationLebera??s hereditary optic neuropathyLeber optic atrophyLeber diseaseidebenonemitochondrial disease;
69.Homocysteine and Psychiatric Disorders

机译：同型半胱氨酸和精神病
- 作者：Vanessa Cavalcante da Silva;Allan Chiaratti de Oliveira;Vania D’Almeida
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
- homocysteineautismschizophreniadepressionbipolar disorderAlzheimer disease;
70.Hyperprolinemia Type IA Benign Metabolic Anomaly or a Trigger for Brain Dysfunction?

机译：高蛋白血症IA型良性代谢异常还是脑功能障碍的诱因？
- 作者：Piero Pavone;Concetta Meli;Andrea D. Praticò;Agata Fiumara;Giovanni Sorge;Martino Ruggieri;Renata Rizzo
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
- brain dysfunctionhyperprolinemia type Imetabolic anomalyPOX deficiencypsychomotor retardation;
71.Epilepsy and Mitochondrial Dysfunction A Single Center?￠????s Experience

机译：癫痫和线粒体功能障碍一个中心的经验
- 作者：Russell P. Saneto
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
- epilepsyseizuresmitochondrial diseaseelectroencephalograminfantile spasmsAlpers-Huttenlocher syndromestatus epilepticustreatment;
72.Gene Therapy for Lysosomal Storage Disorders Recent Advances and Limitations

机译：基因治疗溶酶体贮积症的最新进展和局限性
- 作者：Guilherme Baldo;Esteban Alberto Gonzalez
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
- lysosomal storage disordersgene therapyvectorsHurlerclinical trials;
73.Newborn Screening for Lysosomal Storage Disorders in Belgium The Importance of Sex- and Age-Dependent Reference Ranges

机译：比利时溶酶体贮积病的新生儿筛查性别和年龄相关参考范围的重要性
- 作者：Francois Eyskens;Sylvie Devos
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
- neonatal screeninglysosomal storage diseasestandem mass spectrometrycutoffdried blood spots;
74.The Challenge of Diagnosis and Indication for Treatment in Fabry Disease

机译：法布里病诊断和治疗指征的挑战
- 作者：Vanessa G. Pereira;Patricia Varela;Jo?o B. Pesquero;Marco A. Curiati;Sandra O. Kyosen;Carolina S. Aranda;Ana M. Martins;Vania D’Almeida
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
- genotype-phenotype correlationenzyme replacement therapyalpha-galactosidase A deficiencydried blood spot on filter paperscreening;
75.Strategies for Successful Long-Term Engagement of Adults With Phenylalanine Hydroxylase Deficiency Returning to the Clinic

机译：成人苯丙氨酸羟化酶缺乏症重返临床成功长期参与的策略
- 作者：Mina Nguyen-Driver;Vanessa Birardi;Janet Thomas;Javier Zambrano;Heather Bausell;Jane Breck
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
- phenylalanine hydroxylase deficiencyphenylketonuriametabolic clinicpatient outcomesmanagementrare disease;
76.Mitochondrial Disease and Anesthesia

机译：线粒体疾病和麻醉
- 作者：Philip G. Morgan;Vincent C. Hsieh;Elliot J. Krane
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
- anestheticsgeneticsbiochemistrymitochondriaperioperative;
77.Impact of Elosulfase Alfa on Pain in Patients with Morquio A Syndrome over 52 Weeks MOR-008: A Randomized, Double-Blind, Pilot Study

机译：硫磺酶阿尔法对52周以上Morquio A综合征患者疼痛的影响MOR-008：一项随机双盲试验研究
- 作者：V. Reid Sutton;Marsha Treadwell;Rebecca Sparkes;Simon A. Jones;John J. Mitchell;Nicole Muschol;Gregory M. Pastores;Adam J. Shaywitz;Heather A. Lau;Bianca Meesen;Christine A. Haller;Paul R. Harmatz;Barbara K. Burton;Jeffrey I. Gold
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
- mucopolysaccharidosis IVAMorquio A syndromechronic painlysosomal storage diseasesgalactosamine-6-sulfataseenzyme replacement therapyelosulfase alfa;
78.Clinical Trials in Mitochondrial Disease An Update on EPI-743 and RP103

机译：线粒体疾病的临床试验EPI-743和RP103的更新
- 作者：Bruce H. Cohen;Gregory M. Enns
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
- mitochondrial diseaseEPI-743RP103cysteamineglutathione;
79.Abstracts presented at the 13th International Congress of Inborn Errors of Metabolism - ICIEM 2017

机译：在第13届国际先天性代谢错误国际大会上提交的摘要-ICIEM 2017
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
80.The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population

机译：墨西哥人口中短暂性新生儿酪氨酸血症的发生率
- 作者：Jesús Santos-Guzmán;Diana L. Vazquez-Cantu;Consuelo Cantú-Reyna;Valeria M. Gutiérrez-García;Alexandra V. Zea-Rey;Héctor Cruz-Camino
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
- 4-hydroxyphenylpyruvate dioxygenase deficiencytransient neonatal tyrosinemianewbornincidenceLatin America;
81.Alternative Therapies for PKU

机译：北大的替代疗法
- 作者：Norma Spécola;Ana Chiesa
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
82.Hyperprolinemia Type IA Benign Metabolic Anomaly or a Trigger for Brain Dysfunction?

机译：高蛋白血症IA型良性代谢异常还是脑功能障碍的诱因？
- 作者：Piero Pavone;Concetta Meli;Andrea D. Praticò;Agata Fiumara;Giovanni Sorge;Martino Ruggieri;Renata Rizzo
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
83.Potential Therapeutic Targets of the Endocannabinoid System in Common Neurodegenerative Disorders and Organic Acidemias

机译：常见神经退行性疾病和有机酸血症的内源性大麻素系统的潜在治疗靶标
- 作者：Gabriela Aguilera;Abel Santamaria
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2017年第1期
84.Editorial Letter to Special Issue Fabry Disease

机译：致特刊法布里病的社论信
- 作者：Juan Politei
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第10期
85.Anderson-Fabry Disease A Rare Disease That Mimics Common Cardiac, Neurological, Renal, and Other Disorders: Approach for the Differential Diagnosis and Follow-Up

机译：安德森·法布里（Anderson-Fabry）疾病模仿常见的心脏，神经，肾脏和其他疾病的罕见疾病：鉴别诊断和随访的方法
- 作者：Ana Cabrita;Ana Marta Gomes;Fernando Silva;Márcia Torres;Idalina Beir?o;Patricio Aguiar
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第10期
- Anderson-Fabry diseasealpha-galactosidase Ahypertrophic cardiomyopathyproteinurialeucoencephalopathyangiokeratomachronic diarrheapersistent abdominal painacroparesthesiahypohidrosis;
86.Incidence of Inborn Errors of Metabolism by Expanded Newborn Screening in a Mexican Hospital

机译：墨西哥医院扩大新生儿筛查的先天性代谢错误发生率。
- 作者：Héctor Javier González;Consuelo Cantú-Reyna;Mercedes Vázquez-Cantú;Santiago Benavides;Héctor Cruz-Camino;René Montemayor;Luis Manuel Zepeda
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第10期
- incidenceexpanded newborn screeninginborn errors of metabolisminherited disordersretrospective study;
87.Update on Coronary Involvement in Fabry Disease

机译：法布里病冠状动脉介入的最新进展
- 作者：Gustavo Cabrera
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第10期
- Fabry diseasecoronary involvementmicrovascular involvementcoronary syndromesacute myocardial infarctioncoronary revascularization;
88.Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 Gangliosidosis

机译：9个与青少年和慢性GM1神经节病有关的无关家庭的分子分析
- 作者：Daniel Z. Scherrer;Luciana C. Bonadia;Marcella B. Baptista;Carlos E. Steiner
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第10期
- GLB1 gene?2-galactosidasemutationBrazilian populationsequencing;
89.Abstracts of Free Communications Accepted for Presentation at the IX Latin American Congress of Inborn Errors of Metabolism and Newborn Screening, Medellin, Colombia, December 1 to 4, 2013

机译：2013年12月1日至4日在哥伦比亚麦德林举行的第九届拉丁美洲先天性代谢错误和新生儿筛查大会上接受了免费交流摘要的演讲
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第10期
90.Assessing the Content Validity of the Investigator-Rated ADHD Rating Scale Version IV Instrument Inattention Subscale for Use in Adults With Phenylketonuria

机译：评估研究者评级的ADHD评分量表IV版仪器注意力不集中量表用于成人苯丙酮尿症的内容效度
- 作者：Katharine S. Gries;Haoling H. Weng;Laurel Konkol;Markus J. Merilainen;Kathleen W. Wyrwich;Gemma Al-Jassar;Yinpu Chen;Elizabeth D. Bacci;Rishabh Jain
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第10期
- phenylketonuriacontent validityADHD RS-IVclinician-reported outcomeinattention;
91.Structured Dietary Management Dramatically Improves Marked Transaminitis, Metabolic and Clinical Profiles in Glycogen Storage Disease Type IXa

机译：结构化的饮食管理可显着改善糖原贮积病IXa型的显着的转氨酶，代谢和临床状况
- 作者：Emily Boulter;Indrajit S. Karande;Leah Queit;Shanti Balasubramaniam
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第10期
- GSD IXasevere phenotypeaggressive dietary managementrestitution of clinical and biochemical profiles;
92.Guanidinoacetate Methyltransferase Deficiency A Review of Guanidinoacetate Neurotoxicity

机译：胍基乙酸甲酯甲基转移酶缺乏症-胍基乙酸神经毒性研究综述
- 作者：Eduardo P. Marques;Angela T. S. Wyse
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第10期
- guanidinoacetate methyltransferase deficiencycreatineguanidinoacetateneurotoxicity;
93.Content Validity of the ADHD Rating Scale (ADHD RS-IV) and Adult ADHD Self-Report Scale (ASRS) in Phenylketonuria

机译：苯丙酮尿症多动症评分量表（ADHD RS-IV）和成人多动症自我报告量表（ASRS）的内容有效性
- 作者：Priscilla Auguste;Deborah A. Bilder;Kim Hart Mooney;Suyash Prasad;Kathleen W. Wyrwich;Shannon Shaffer;Katharine Gries
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第10期
- phenylketonuriametabolic disorderattention-deficit/hyperactivity disorderinattentivenesscontent validity;
94.Book of Abstracts

机译：摘要书
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第10期
95.Orthotopic Liver Transplantation in Glycogen Storage Disease Type 1a Perioperative Glucose and Lactate Homeostasis

机译：糖原贮积病1a型围手术期葡萄糖和乳酸稳态的原位肝移植
- 作者：Matheus V. M. B. Wilke;Terry G. J. Derks;Cynthia C. A. van Amerongen;Francjan J. van Spronsen;J. K. G. Wietasch;Hans Blokzijl;Ida V. D. Schwartz;Ruben H. de Kleine
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第10期
- glycogen storage disease type 1aliver transplantationfamilial amyloid polyneuropathyglucose bloodhypoglycemialactic acidemia;
96.Conventional Phenylketonuria Treatment

机译：常规苯丙酮尿症治疗
- 作者：Guillén-López Sara;Vela-Amieva Marcela;Ibarra-González Isabel;López-Mejía Lizbeth Alejandra
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第10期
- phenylketonuriaphenylalanine hydroxylase deficiencynutritional treatmentconventional treatmentLatin America;
97.Auxotrophy-Based Detection of Hyperornithinemia in Mouse Blood and Urine

机译：基于营养缺陷的小鼠血液和尿液中高蛋白血症的检测
- 作者：Alex V. Nesta;Michael A. Davis;Thomas R. King;Kenneth M. Palanza;Renukanandan Tumu;Cherie M. Walton
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第10期
- argE mutant E coligyrate atrophy of the choroid and retinaornithine biosensormetabolic screeninganimal models of human disease;
98.Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening The Application of a Second-Tier Test

机译：在扩大新生儿筛查中降低异戊基肉碱的假阳性率第二层检验的应用
- 作者：Giancarlo la Marca;Sabrina Malvagia;Silvia Funghini;Kathleen S. McGreevy;Cinzia Castana;Massimo Mura;Vincenzo Bellavia;Orazia Maria Granata;Tommaso Silvano Aronica;Elisabetta Pasquini;Laura Santoro;Daniela Ombrone;Sara Poggiali;Giulia Forni
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第10期
- newborn screeningtandem mass spectrometryfalse positivepivalic acidsecond-tier test;
99.The Role of Next-Generation Sequencing in the Diagnosis of Lysosomal Storage Disorders

机译：下一代测序在溶酶体贮积病诊断中的作用
- 作者：Michael Beck;Katalin Komlosi;Alexander Sólyom
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第10期
- NGSLSDtarget enrichmentcoverageclinical utility;
100.Folate and Cancer Is There Any Association?

机译：叶酸和癌症有联系吗？
- 作者：Luciana Yuki Tomita
- 期刊名称：《Journal of Inborn Errors of Metabolism & Screening》 | 2016年第10期
- folatefolic acidunmetabolized folic acidcancerdysplasia;

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