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International Journal of Neonatal Screening

中文名称：国际期刊的新生儿筛查

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1.Correction: Loeber, Gerard. ISNS 9th International Symposium, The Hague, The Netherlands, September 11?￠????14, 2016. Int. J. Neonatal Screen. 2016, 2 , 5

机译：更正：Loeber，Gerard。 ISNS第9届国际研讨会，荷兰海牙，9月11日，2016年9月14日。 J.新生儿筛查。 2016，2，5
- 作者：Gerard Loeber
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第2期
2.Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs

机译：新生儿溶酶体贮积病的筛查：对筛查方法，治疗可能性和区域性计划文献的简要回顾
- 作者：Peter C. J. I. Schielen;Michael H. Gelb;Evelien A. Kemper
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第2期
3.The First Results of Extended Newborn Screening in Slovakia?￠????Differences between the Majority and the Roma Ethnic Group

机译：斯洛伐克扩大新生儿筛查的初步结果-多数人与罗姆族之间的差异
- 作者：Svetozár Dluholucky;Mária Knapková
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第3期
4.Correction: Loeber, Gerard. ISNS 9th International Symposium, The Hague, The Netherlands, September 11?￠????14, 2016. Int. J. Neonatal Screen. 2016, 2 , 5

机译：更正：Loeber，Gerard。 ISNS第9届国际研讨会，荷兰海牙，9月11日，2016年9月14日。 J.新生儿筛查。 2016，2，5
- 作者：Gerard Loeber
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第2期
5.Glue for Manufacturing Heel Prick Filter Cards Does Not Interfere with the Measurement of Analytes for Newborn Screening

机译：用于制造脚跟点刺滤卡的胶水不会干扰新生儿筛查的分析物的测量
- 作者：Rose E. Maase;Peter C. J. I. Schielen;Marelle J. Bouva
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第4期
- newborn screeningNBSWhatman#903EBF#1003 gluecontaminationinterference;
6.An Important Factor?￠???? Impact

机译：一个重要因素？影响力
- 作者：Ralph Fingerhut
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第4期
7.Newborn Screening for Primary Immunodeficiency Diseases: The Past, the Present and the Future

机译：原发性免疫缺陷疾病的新生儿筛查：过去，现在和未来
- 作者：Jonas F. Ludvigsson;Jovanka King;Lennart Hammarstr?m
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第3期
8.Abstracts of Presentations Scheduled for the 10th ISNS-Asia Pacific Regional Meeting, Ulaanbataar, Mongolia, 24?￠????26 August 2017

机译：第十届ISNS亚太地区会议的演讲摘要，蒙古，乌兰巴托，2017年8月26日。
- 作者：J. Gerard Loeber
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第3期
9.Gunnar Jungner and the Principles and Practice of Screening for Disease

机译：Gunnar Jungner与疾病筛查的原理与实践
- 作者：Martin Engvall;Ulrika von D?beln;Ingmar Jungner;Lars Jungner
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第3期
- screeningpre-symptomaticJungnerbiography;
10.Newborn Screening for Primary Immunodeficiency Diseases: The Past, the Present and the Future

机译：原发性免疫缺陷疾病的新生儿筛查：过去，现在和未来
- 作者：Jonas F. Ludvigsson;Jovanka King;Lennart Hammarstr?m
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第3期
- newborn screeningprimary immunodeficiency diseasesTRECKRECnext-generation sequencing;
11.Newborn Screening for Krabbe Disease and Other Lysosomal Storage Disorders: Broad Lessons Learned

机译：新生儿筛查克拉伯病和其他溶酶体贮积病：吸取的广泛经验教训
- 作者：Joseph J. Orsini;Michele Caggana
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第1期
- newborn screeninglysosomal storage disordersKrabbe disease;
12.MCAD-Deficiency with Severe Neonatal Onset, Fatal Outcome and Normal Acylcarnitine Profile

机译：MCAD缺乏症，伴有严重的新生儿发作，致命结果和正常的酰基肉碱
- 作者：Martin Girsberger;Susanna H.M. Sluka;Silvia Miranda Azzarello-Burri;Anita Rauch;Niels J. Rupp;Theresia Herget;Ralph Fingerhut;Pascal Joset;Matthias Baumgartner
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第3期
- medium-chain acyl-CoA dehydrogenase deficiencyMCADDnewborn screeningNBSdried blood spotsDBS;
13.A Single-Extremity Staged Approach for Critical Congenital Heart Disease Screening: Results from Tennessee

机译：关键先天性心脏病筛查的单肢分级方法：田纳西州的结果
- 作者：Jean A. Ballweg;William Walsh
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第4期
14.Newborn Screening for Severe Combined Immunodeficiency in Taiwan

机译：台湾严重合并免疫缺陷的新生儿筛查
- 作者：Tang-Her Jaing;Shu-Chuan Chiang;Jiann-Shiuh Chen;Hsin-Hui Yu;Yin-Hsiu Chien;Ni-Chung Lee;Chi-Chang Shieh;Meng-Yao Lu;Wen-I Lee;Wuh-Liang Hwu;Kuei-Wen Chang;Hui-Chen Ho;Chen-Chen Liu;Shu-Min Kao
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第3期
- TRECKREC22q11.2 deletionT cell lymphopenia;
15.A Practical Guide to Implementing Population Newborn Screening (NBS) for Severe Combined Immunodeficiency (SCID)

机译：严重综合免疫缺陷病（SCID）实施人口新生儿筛查（NBS）的实用指南
- 作者：H. Bobby Gaspar
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第4期
- SCIDT-cell receptor excision circles (TRECs)newborn screening;
16.Fibroblast Fatty-Acid Oxidation Flux Assays Stratify Risk in Newborns with Presumptive-Positive Results on Screening for Very-Long Chain Acyl-CoA Dehydrogenase Deficiency

机译：成纤维细胞脂肪酸氧化通量测定法在筛查超长链酰基辅酶A脱氢酶缺乏症的推定阳性结果中分层了新生儿的风险
- 作者：Nigel J. Manning;Rodney J. Pollitt;Joanne Croft;Marisa Chard;Jane Dalley;Emma Glamuzina;Rebecca Sparkes;Aneal Khan;Shirley Clark;Camilla A. Scott;Richard J. Kirk;Alicia Chan;Brage S. Andresen;Jean Bastin;Simon E. Olpin
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第1期
- VLCAD very long chain acyl-CoA dehydrogenasenewborn screeningfalse positiveoleic acid oxidationfatty acid oxidation fluxenzyme assay;
17.Regional Variation in the Incidence of Congenital Hypothyroidism in Macedonia

机译：马其顿先天性甲状腺功能减退症发病率的区域差异
- 作者：Elizabeta Taseva;Elena Sukarova-Angelovska;Milica Pesevska;Violeta Anastasovska;Mirjana Kocova
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第3期
- congenital hypothyroidismincidencenewborn screeningthyroid-stimulating hormoneregioniodine intake;
18.Newborn Screening for Primary T- and B-Cell Immune Deficiencies?￠????A Prospective Study in Andaluc???-a

机译：新生儿筛查原发性T和B细胞免疫缺陷的研究-Andaluc的前瞻性研究
- 作者：Beatriz de Felipe;Carmen Delgado-Pecellin;Josefina Marquez;Joséfa Salguero Martin de Soto;Paula Sanchez-Moreno;Walter Goycochea-Valdivia;Carlos Jimenez Contreras;Carmen Salamanca;Araceli Ferrari-Cortes;Peter Olbrich;Berta Sánchez;Olaf Neth;José Manuel Lucena
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第4期
- newborn screeningprimary immunodeficienciesTRECSKRECS;
19.Suitable Specimen Types for Newborn Biochemical Screening-A Summary

机译：新生儿生化检查的合适标本类型-摘要
- 作者：Kate Hall
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第3期
- newborn screeningspecimen typedried bloodspot screeningurine screeningcord blood screening;
20.A Rare Case of Malonic Aciduria Diagnosed by Newborn Screening in Qatar

机译：卡塔尔新生儿筛查诊断为罕见的丙二酸尿症。
- 作者：Rola Fayez Mitri;Laila Mahmoud Ahmed;Ravi Joshi;Ghassan Abdoh;Victor Anthony Skrinska;Mamatha Ramaswamy
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第1期
- malonic aciduriamalonyl-CoA decarboxylaseMLYCDnewborn screeningmalonic acidmethylmalonic acidMCDmalonylcarnitineC3DC;
21.Obituary Prof. Dr. Ruth Illig

机译：itu告教授Ruth Illig博士
- 作者：Annette Grüters-Kieslich;Toni Torresani;Daniel Konrad
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第3期
22.A Single-Extremity Staged Approach for Critical Congenital Heart Disease Screening: Results from Tennessee

机译：关键先天性心脏病筛查的单肢分级方法：田纳西州的结果
- 作者：Jean A. Ballweg;William Walsh
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第4期
- pulse oximetry screeningscreening algorithmcritical congenital heart diseasestate screeningcoarctation of aorta;
23.Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs

机译：新生儿溶酶体贮积病的筛查：对筛查方法，治疗可能性和区域性计划文献的简要回顾
- 作者：Peter C. J. I. Schielen;Michael H. Gelb;Evelien A. Kemper
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第2期
- lysosomal storage diseasetandem mass spectrometryfluorimetryneonatal screeningnewborn screeningenzyme replacement therapyhematopoietic stem cell transferpilot screening programbiomarker;
24.The Risk from Anti-Thyroid Hormone Antibody Interference in Neonatal Congenital Hypothyroidism Screening

机译：新生儿先天性甲状腺功能减退症筛查中抗甲状腺激素抗体干扰的风险
- 作者：Ian Brincat;Gerald Buhagiar
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第1期
- neonatal hypothyroidism screeninganti-thyroid hormone antibodyinterferencecord-blood;
25.Welcome to the International Journal of Neonatal Screening

机译：欢迎来到国际新生儿筛查杂志
- 作者：Ralph Fingerhut
- 期刊名称：《International Journal of Neonatal Screening》 | 2014年第1期
26.Mini-Review: Challenges in Newborn Screening for Urea Cycle Disorders

机译：小型复习：新生儿筛查尿素循环障碍的挑战
- 作者：Johannes H#xE4;berle;Ralph Fingerhut;V#xE9;ronique R#xFC;fenacht
- 期刊名称：《International Journal of Neonatal Screening》 | 2015年第1期
27.Influence of Hematocrit and Total-Spot Volume on Performance Characteristics of Dried Blood Spots for Newborn Screening

机译：血细胞比容和总斑点体积对新生儿筛查干血斑性能特征的影响
- 作者：Elizabeth M. Hall;Ralph Fingerhut;Sharon R. Flores;V#xED;ctor R. De Jes#xFA;s
- 期刊名称：《International Journal of Neonatal Screening》 | 2015年第2期
28.Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

机译：中链酰基辅酶A缺乏症的新生儿筛查—见解和意外挑战
- 作者：Esther M. Maier;Ralph Fingerhut
- 期刊名称：《International Journal of Neonatal Screening》 | 2015年第3期
29.Newborn Screening for Glutaric Aciduria Type I: Benefits and limitations

机译：新生儿筛查戊型酸尿症的益处和局限性
- 作者：J#xFC;rgen G. Okun;Jana Heringer;Nikolas Boy;Peter Burgard;Ralph Fingerhut;Stefan K#xF6;lker
- 期刊名称：《International Journal of Neonatal Screening》 | 2015年第2期
30.Early Diagnosis of Children with Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency by Newborn Screening

机译：新生儿筛查21-羟化酶缺乏症引起的典型先天性肾上腺皮质增生患儿的早期诊断
- 作者：Birgit Odenwald;Helmuth G. D#xF6;rr;Uta Nennstiel-Ratzel
- 期刊名称：《International Journal of Neonatal Screening》 | 2015年第1期
31.Improved Identification of Partial Biotinidase Deficiency by Newborn Screening Using Age-Related Enzyme Activity Cutoffs: Reduction of the False-Positive Rate

机译：通过使用年龄相关的酶活性临界值的新生儿筛查，改善对部分生物素酶缺乏症的鉴定：减少假阳性率
- 作者：Barry Wolf;Bonita Taffe;Eleanor Stanley;Harry Hawkins;Kristin G. Monaghan;Mary Seeterlin;Nicole VanVleck;Ralph Fingerhut
- 期刊名称：《International Journal of Neonatal Screening》 | 2015年第1期
32.The Story of Biotinidase Deficiency and Its Introduction into Newborn Screening: The Role of Serendipity

机译：生物素酶缺乏症的故事及其在新生儿筛查中的应用：偶然性的作用
- 作者：Barry Wolf
- 期刊名称：《International Journal of Neonatal Screening》 | 2015年第1期
33.Newborn Screening for Primary Immunodeficiencies: Focus on Severe Combined Immunodeficiency (SCID) and Other Severe T-Cell Lymphopenias

机译：新生儿筛查的主要免疫缺陷：集中于严重的联合免疫缺陷（SCID）和其他严重的T细胞淋巴细胞减少症
- 作者：Janine Reichenbach;Peter C.J.I. Schielen;Stephan Borte
- 期刊名称：《International Journal of Neonatal Screening》 | 2015年第3期
34.The Newborn Screening Quality Assurance Program at the Centers for Disease Control and Prevention: Thirty-Five Year Experience Assuring Newborn Screening Laboratory Quality

机译：疾病控制与预防中心的新生儿筛查质量保证计划：确保新生儿筛查实验室质量的三十五年经验
- 作者：Carla D. Cuthbert;Joanne V. Mei;Ralph Fingerhut;Suzanne K. Cordovado;V#xED;ctor R. De Jes#xFA;s
- 期刊名称：《International Journal of Neonatal Screening》 | 2015年第1期
35.Critical Newborn Screens in Double Heterozygotes of Inborn Errors of Metabolism?￠????A Clinical Report and Recommendations

机译：先天性代谢错误双杂合子的关键新生儿筛查-临床报告和建议
- 作者：Jennifer O. Macdonald;Katherine G. Langley;Brooke B. Spangler;Erin T. Strovel;Elizabeth N. Chisholm;Samantha Schrier Vergano
- 期刊名称：《International Journal of Neonatal Screening》 | 2016年第4期
- newborn screeninginborn errors of metabolismhyperammonemiafatty acid oxidation defecturea cycle disorder;
36.Neonatal Screening for Medium-Chain Acyl-CoA Dehydrogenase Deficiency?￠????Alternative Approaches

机译：中链酰基辅酶A脱氢酶缺乏症的新生儿筛查？替代方法
- 作者：Rodney J. Pollitt
- 期刊名称：《International Journal of Neonatal Screening》 | 2016年第1期
- medium-chain acyl-CoA dehydrogenasenewborn screeningneonatal screening;
37.A Simple Method to Overcome the ?￠????Floating Disc Problem?￠???? Using the GALT-Assay on the PerkinElmer GSP?￠????Remeasurement on a Stand Alone Plate Fluorimeter

机译：一种解决？￠ ??????浮盘问题？Simple ????的简单方法在PerkinElmer GSP上使用GALT分析-在独立平板荧光计上进行重新测量
- 作者：Ralph Fingerhut;Susanna H. M. Sluka
- 期刊名称：《International Journal of Neonatal Screening》 | 2016年第4期
38.ISNS 9th International Symposium, The Hague, The Netherlands, September 11?￠????14, 2016

机译：ISNS第九届国际研讨会，荷兰海牙，9月11日，2016年14月14日
- 作者：Gerard Loeber
- 期刊名称：《International Journal of Neonatal Screening》 | 2016年第3期
39.23 rd Annual Meeting of the German Society for Newborn Screening (Deutsche Gesellschaft f????r Neugeborenenscreening, DGNS)

机译：德国新生儿筛查学会第23届年会（DGNS的Neugeborenenscreening，Deutsche Gesellschaft）
- 作者：Jürgen G. Okun;Gwendolyn Gramer;Georg F. Hoffmann
- 期刊名称：《International Journal of Neonatal Screening》 | 2016年第3期
- newborn screeningtarget disorderscystic fibrosispilot projectssecond-tier strategiesorganic aciduriastyrosinaemia type Isickle cell diseasenext generation sequencing;
40.Oxygen Saturation Reference Value by Percutaneous Pulse Oximetry in Asymptomatic Newborn Babies in Nigeria: A Cross-Sectional Study

机译：尼日利亚无症状新生婴儿经皮脉搏血氧饱和度测定的氧饱和度参考值：跨部门研究
- 作者：Obumneme Ezeanosike;Bede Ibe;Tagbo Oguonu;Ngozi Ibeziako
- 期刊名称：《International Journal of Neonatal Screening》 | 2016年第3期
- newborn babiesoxygen saturationpulse oximetryreference value;
41.A Novel Approach to Critical Congenital Heart Disease (CCHD) Screening at Moderate Altitude

机译：在中等海拔条件下筛查危重先天性心脏病（CCHD）的新方法
- 作者：Christopher M. Rausch;Jason Wright;Leilani Russell;Joshua Miller;Mary Kohn;Marci Sontag;Erin Lueth;Cindy Eller;Mark Duster
- 期刊名称：《International Journal of Neonatal Screening》 | 2016年第3期
- pulse oximetryscreeningcritical congenital heart diseasealtitude;
42.Brain Biomarkers of Long-Term Outcome of Neonatal Onset Urea Cycle Disorder

机译：新生儿尿素循环障碍长期结果的脑生物标志物
- 作者：Johannes H?berle;Maha Mourad;Matthew T. Whitehead;Tamar Stricker;Andrea L. Gropman
- 期刊名称：《International Journal of Neonatal Screening》 | 2016年第4期
- urea cycle disorderornithine transcarbamylase deficiencymagnetic resonance imagingmagnetic resonance spectroscopy;
43.ISNS 9th International Symposium, The Hague, The Netherlands, September 11?￠????14, 2016

机译：ISNS第九届国际研讨会，荷兰海牙，9月11日，2016年14月14日
- 作者：Gerard Loeber
- 期刊名称：《International Journal of Neonatal Screening》 | 2016年第3期
44.A Simple Method to Overcome the ?￠????Floating Disc Problem?￠???? Using the GALT-Assay on the PerkinElmer GSP?￠????Remeasurement on a Stand Alone Plate Fluorimeter

机译：一种解决？￠ ??????浮盘问题？Simple ????的简单方法在PerkinElmer GSP上使用GALT分析-在独立平板荧光计上进行重新测量
- 作者：Ralph Fingerhut;Susanna H. M. Sluka
- 期刊名称：《International Journal of Neonatal Screening》 | 2016年第4期
- newborn screeningNBSgalactosaemiaGALT;
45.A Rapid and Sensitive UPLC-MS/MS-Method for the Separation and Quantification of Branched-Chain Amino Acids from Dried Blood Samples of Patients with Maple Syrup Urine Disease (MSUD)

机译：快速，灵敏的UPLC-MS / MS-方法从枫糖浆尿病（MSUD）患者干血中分离和定量支链氨基酸
- 作者：Wulf R?schinger;Ralph Fingerhut;Markus Heck
- 期刊名称：《International Journal of Neonatal Screening》 | 2016年第2期
- newborn screeningneonatal screeningmaple syrup urine diseaseMSUDdried blood spotspatient follow upinborn errors of metabolismIEM;
46.Evaluation of MBJ20 ???? Transcutaneous Bilirubinometer in the Assessement of Severity of Neonatal Jaundice

机译：评估MBJ20 ????经皮胆红素计在新生儿黄疸严重程度评估中的应用
- 作者：Henry Okpara;Ebele F. Ugochukwu;Chinelo Madubuike;John Chukwuka;Obumneme Ezeanosike
- 期刊名称：《International Journal of Neonatal Screening》 | 2016年第4期
47.Brain Biomarkers of Long-Term Outcome of Neonatal Onset Urea Cycle Disorder

机译：新生儿尿素循环障碍长期结果的脑生物标志物
- 作者：Johannes H?berle;Maha Mourad;Matthew T. Whitehead;Tamar Stricker;Andrea L. Gropman
- 期刊名称：《International Journal of Neonatal Screening》 | 2016年第4期
48.Newborn Screening for X-Linked Adrenoleukodystrophy

机译：X联肾上腺皮质营养不良的新生儿筛查
- 作者：Beth H. Vogel;Ann B. Moser;Walter C. Hubbard;Silvia Tortorelli;Richard O. Jones;Joseph J. Orsini;Michele Caggana;Gerald V. Raymond
- 期刊名称：《International Journal of Neonatal Screening》 | 2016年第4期
- newborn screeningX-linked adrenoleukodystrophyadrenal insufficiencyhematopoietic cell transplantationC26:0 lysophosphatidyl cholinedried blood spottandem mass spectrometry (LC-MS/MS)peroxisomal disorders;
49.Evaluation of MBJ20 ???? Transcutaneous Bilirubinometer in the Assessement of Severity of Neonatal Jaundice

机译：评估MBJ20 ????经皮胆红素计在新生儿黄疸严重程度评估中的应用
- 作者：Henry Okpara;Ebele F. Ugochukwu;Chinelo Madubuike;John Chukwuka;Obumneme Ezeanosike
- 期刊名称：《International Journal of Neonatal Screening》 | 2016年第4期
- hyperbilirubinemianeonatal jaundiceserum bilirubinMBJ20 transcutaneous bilirubinometer;
50.The Further Adventures of Newborn Screening for Biotinidase Deficiency: Where It Is at and What We Still Need to Know

机译：新生儿生物素酶缺乏症筛查的进一步历程：它在哪里以及我们仍然需要知道什么
- 作者：Barry Wolf
- 期刊名称：《International Journal of Neonatal Screening》 | 2016年第4期
- biotinidasebiotinidase deficiencybiotinnewborn screeningoutcomes;
51.A Life in Newborn Screening

机译：新生儿筛查的生活
- 作者：Harvey L. Levy
- 期刊名称：《International Journal of Neonatal Screening》 | 2016年第4期
- newborn screeningexpanded screeningmy lifemedical communityphenylketonuriaPKUmaternal;
52.A Non-Invasive Strategy for Neonatal Alloimmune Thrombocytopenia Diagnosis: Newborn Platelet Genotyping with Buccal Swabs

机译：新生儿同种免疫血小板减少症诊断的非侵入性策略：含颊拭子的新生儿血小板基因分型
- 作者：Gérald Bertrand;Cécile Kaplan
- 期刊名称：《International Journal of Neonatal Screening》 | 2016年第3期
- neonatal alloimmune thrombocytopenia (NAIT)Human Platelet Antigen (HPA)genotypingbuccal swabDNA extraction;
53.A Non-Derivatized Assay for the Simultaneous Detection of Amino Acids, Acylcarnitines, Succinylacetone, Creatine, and Guanidinoacetic Acid in Dried Blood Spots via Tandem Mass Spectrometry

机译：串联质谱法同时检测干血斑中氨基酸，酰基肉碱，琥珀酰丙酮，肌酸和胍基乙酸的非衍生化测定
- 作者：Víctor R. De Jesús;Carter K. Asef;Kameron M. Khaksarfard
- 期刊名称：《International Journal of Neonatal Screening》 | 2016年第4期
- guanidinoacetate methyltransferasedried blood spotstandem mass spectrometryguanidinoacetic acidcreatine;
54.A Non-Derivatized Assay for the Simultaneous Detection of Amino Acids, Acylcarnitines, Succinylacetone, Creatine, and Guanidinoacetic Acid in Dried Blood Spots via Tandem Mass Spectrometry

机译：串联质谱法同时检测干血斑中氨基酸，酰基肉碱，琥珀酰丙酮，肌酸和胍基乙酸的非衍生化测定
- 作者：Víctor R. De Jesús;Carter K. Asef;Kameron M. Khaksarfard
- 期刊名称：《International Journal of Neonatal Screening》 | 2016年第4期
55.Newborn Screening for X-Linked Adrenoleukodystrophy

机译：X联肾上腺皮质营养不良的新生儿筛查
- 作者：Beth H. Vogel;Ann B. Moser;Walter C. Hubbard;Silvia Tortorelli;Richard O. Jones;Joseph J. Orsini;Michele Caggana;Gerald V. Raymond
- 期刊名称：《International Journal of Neonatal Screening》 | 2016年第4期
56.The Further Adventures of Newborn Screening for Biotinidase Deficiency: Where It Is at and What We Still Need to Know

机译：新生儿生物素酶缺乏症筛查的进一步历程：它在哪里以及我们仍然需要知道什么
- 作者：Barry Wolf
- 期刊名称：《International Journal of Neonatal Screening》 | 2016年第4期
57.Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay?￠????A Three-Year Pilot Study in Sweden

机译：使用TREC / KREC / ACTB三重分析法对新生儿进行原发性免疫缺陷筛查-一项为期三年的瑞典试点研究
- 作者：Rolf H. Zetterstr?m;Susanne Jonsson;Ulrika von D?beln;Stephan Borte;Lennart Hammarstr?m;Michela Barbaro;Jacek Winiarski;Annika Ohlsson
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第2期
58.Indifferent or Uninformed? Reflections of Health Professionals on Parental Education and Consent for Expanded Newborn Screening in Israel, 2008?￠????2016

机译：漠不关心还是无知？卫生专业人员对以色列父母教育和扩大新生儿筛查的同意的思考，2008年，2016年
- 作者：Shlomit Zuckerman
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第2期
- educationparentethicshealth care professionalsnewborn screening;
59.Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay?￠????A Three-Year Pilot Study in Sweden

机译：使用TREC / KREC / ACTB三重分析法对新生儿进行原发性免疫缺陷筛查-一项为期三年的瑞典试点研究
- 作者：Rolf H. Zetterstr?m;Susanne Jonsson;Ulrika von D?beln;Stephan Borte;Lennart Hammarstr?m;Michela Barbaro;Jacek Winiarski;Annika Ohlsson
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第2期
- severe combined immunodeficiency (SCID)primary immune deficiencies (PID)T-cell receptor excision circle (TREC)kappa-deleting recombination excision circle (KREC)newborn screeningneonatal screeningazathioprinetacrolimusBrutoninborn errors of metabolism;
60.The First Results of Extended Newborn Screening in Slovakia?￠????Differences between the Majority and the Roma Ethnic Group

机译：斯洛伐克扩大新生儿筛查的初步结果-多数人与罗姆族之间的差异
- 作者：Svetozár Dluholucky;Mária Knapková
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第3期
- extended newborn screeningethnic screening differencesRoma ethnicity;
61.Impact of Lower Screening TSH Cutoff Level on the Increasing Prevalence of Congenital Hypothyroidism

机译：降低TSH筛查水平对先天性甲状腺功能减退症患病率的影响
- 作者：Mirjana Kocova;Violeta Anastasovska
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第2期
- congenital hypothyroidismprevalenceneonatal screeningthyroid-stimulating hormonecutoff level;
62.Setting up a Newborn Hearing Screening Programme in a Low-Income Country: Initial Findings from Malawi

机译：在低收入国家/地区建立新生儿听力筛查程序：马拉维的初步发现
- 作者：Helen Brough
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第4期
- newborn hearing screeningloss to follow upaudiology;
63.Neonatal Screening for Primary Carnitine Deficiency: Lessons Learned from the Faroe Islands

机译：初级肉碱缺乏症的新生儿筛查：从法罗群岛汲取的经验教训
- 作者：Ulrike Steuerwald;Allan M. Lund;Nils Janzen;David M. Hougaard;Nicola Longo;Jan Rasmussen
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第1期
- primary carnitine deficiencycarnitine uptake defectnewborn screeningfatty acid oxidationSLC22A5OCTN2mutationsmaternal carnitine deficiencyFaroe Islands;
64.Newborn Screening for Severe Combined Immunodeficiency in Israel

机译：以色列严重综合免疫缺陷的新生儿筛查
- 作者：Shlomo Almashanu;Raz Somech;Talia Saraf-Levy;Atar Lev;Amos Etzioni;Erez Rechavi
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第2期
- newborn screening (NBS)severe combined immunodeficiency (SCID)IsraelARTEMISDNA cross-link repair protein 1c ( DCLRE1C )T cell receptor excision circle (TREC);
65.Critical Congenital Heart Disease Screening Using Pulse Oximetry: Achieving a National Approach to Screening, Education and Implementation in the United States

机译：使用脉搏血氧饱和度测定法进行关键先天性心脏病筛查：在美国实现筛查，教育和实施的国家级方法
- 作者：Gerard R. Martin;Lisa A. Wandler
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第4期
- CCHD screening in the USnewborn screening pulse oximetrycritical congenital heart disease screening;
66.A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy

机译：新生儿筛查杜氏肌营养不良症的路线图
- 作者：Jerry R. Mendell;Annie Kennedy;Veronica Lopez;Samiah A. Al-Zaidy;Michele Lloyd-Puryear
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第2期
- Duchennenewborn screeninggene therapymuscular dystrophy;
67.Cost and Cost-Effectiveness Assessments of Newborn Screening for Critical Congenital Heart Disease Using Pulse Oximetry: A Review

机译：使用脉搏血氧饱和度测定法对新生儿先天性心脏病的筛查的成本和成本效果评估：综述
- 作者：Rahi Abouk;Scott D. Grosse;Jill Glidewell;Cora Peterson;Matthew E. Oster
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第4期
- neonatal screeningcritical congenital heart diseaseeconomic evaluationcost-effectivenesshealth policy;
68.Newborn Screening for Severe Combined Immunodeficiency-A History of the TREC Assay

机译：严重合并免疫缺陷的新生儿筛查-TREC分析的历史
- 作者：John M. Routes;Mary T. Bausch-Jurken;James W. Verbsky
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第2期
- newborn screeningsevere combined immunodeficiencyT-cell lymphopeniaT-cell receptor excision circleTREC assay;
69.Newborn Screening for Severe Combined Immunodeficiency in the US: Current Status and Approach to Management

机译：在美国进行严重合并免疫缺陷的新生儿筛查：现状和管理方法
- 作者：Morna Dorsey;Jennifer Puck
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第2期
- Severe combined immunodeficiencynewborn screeningTRECsT lymphopeniapreterm;
70.Abstracts of Presentations Scheduled for the 10th ISNS-Asia Pacific Regional Meeting, Ulaanbataar, Mongolia, 24?￠????26 August 2017

机译：第十届ISNS亚太地区会议的演讲摘要，蒙古，乌兰巴托，2017年8月26日。
- 作者：J. Gerard Loeber
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第3期
71.Glue for Manufacturing Heel Prick Filter Cards Does Not Interfere with the Measurement of Analytes for Newborn Screening

机译：用于制造脚跟点刺滤卡的胶水不会干扰新生儿筛查的分析物的测量
- 作者：Rose E. Maase;Peter C. J. I. Schielen;Marelle J. Bouva
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第4期
72.Phenylketonuria and Hirschsprung Disease?￠????A Report of an Unusual Neonatal Presentation

机译：苯丙酮尿症和大隐身病-新生儿异常表现的报告
- 作者：Ralph Fingerhut;Susanna H. M. Sluka;Beat Th?ny;Nina Lenherr;Martina Huemer;Gabor Szinnai;Stefan Holland-Cunz;Viktoria A. Pfeifle;Marianne Rohrbach
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第3期
- Phenylketonuriamaple syrup urine diseaseHirschsprung diseaseintestinal motility disorder;
73.Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency

机译：遗传测试的实用程序，用于确认长链脂肪酸疾病的异常新生儿筛查：肉碱棕榈酸转移酶1A（CPT1A）缺乏症
- 作者：Can Ficicioglu;Sanmati Cuddapah;Leah Dowsett;Lauren Lulis
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第2期
- carnitine palmitoyltransferase deficiencyCPT1Afatty acid oxidation disorderselevated liver transaminasesAshkenazi Jewishneonatal screening;
74.A Rapid Screening Method for the Measurement of Neonatal Total Homocysteine in Dried Blood Spots by Liquid Chromatography-Tandem Mass Spectrometry

机译：液相色谱-串联质谱快速筛查新生儿干血斑中总同型半胱氨酸的方法
- 作者：Lubna Hassan;Piero Rinaldo;Rola Mitri;Dietrich Matern;Victor Skrinska;Rose Maase;Coleman Turgeon;Noura Younes
- 期刊名称：《International Journal of Neonatal Screening》 | 2017年第4期
- homocysteinehomocystinuriacystathionine-?2-synthase deficiencynewborn screening;

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