A novel mutation of the arylsulfatase a gene in late-onset metachromatic leukodystrophy

Schneider; Hasan; A.a; Hirschel; S.a; Wilhelm; C.c; Kohlhase; J.c; Falkai; P.a; G?rtner; J.b; Steinfeld; R.b; Wobrock; T.a; Degner; D.a

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A novel mutation of the arylsulfatase a gene in late-onset metachromatic leukodystrophy

机译：芳基硫酸酶A基因的新突变在后期异常性白科医养学中的基因

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《The journal of clinical psychiatry》 |2009年第12期|共1页
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Schneider; Hasan; A.a; Hirschel; S.a; Wilhelm; C.c; Kohlhase; J.c; Falkai; P.a; G?rtner; J.b; Steinfeld; R.b; Wobrock; T.a; Degner; D.a;
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Memory Clinic Department of Psychiatry and Psychotherapy University Medicine Germany;

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正文语种 eng
中图分类精神病学;
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1. Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene [J] . Stoeck Katharina, Psychogios Marios Nikos, Ohlenbusch Andreas, Journal of Alzheimer's disease: JAD . 2016,第3期

机译：迟发性变态性白细胞营养不良与早发性痴呆与芳基硫酸酯酶A基因的新型错义突变相关。
2. Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy [J] . LuziP., RafiM.A., RaoH.Z., Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function . 2013,第2期

机译：芳基硫酸酯酶A基因中的十六个新突变导致变色性白细胞营养不良
3. Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy [J] . LuziP., RafiM.A., RaoH.Z., Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function . 2013,第2期

机译：芳基硫酸酯酶A基因中的十六个新突变导致变色性白细胞营养不良
4. Toward Neonatal Diagnosis of Metachromatic Leukodystrophy: Tandem Mass Spectrometry Determination of Sulfatide Isoforms in Dried Blood Spots. [C] . Mariana Barcenas, Frantisek Turecek, C. Ronald Scott, American Society for Mass Spectrometry Conference on Mass Spectrometry and Allied Topics . 2012

机译：对新生儿诊断进行新生儿诊断：串联质谱法测定干燥血斑中硫酸族同种型的测定。
5. Significance of arylsulfatase A in spermatogenesis and sperm fertilizing ability. [D] . Xu, Hongbin. 2009

机译：芳基硫酸酯酶A在精子发生和精子受精能力中的意义。
6. Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis [O] . Lulu Xu, Meixiang Zhong, Yajuan Wang, 2020

机译：案例报告：具有成人发作的患者的新型芳基硫酸酶A（ARSA）基因突变其成人发作的异形白科医疗误诊为多发性硬化
7. Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy [O] . Martina Cesani, Alessia Capotondo, Tiziana Plati, 2009

机译：新芳基硫酸酶的表征基因突变增强了异育菌中的基因型 - 表型相关性

A novel mutation of the arylsulfatase a gene in late-onset metachromatic leukodystrophy

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