Molecular Genetics and Metabolism

Newborn screening for metachromatic leukodystrophy: Preparation of reagents and methodology for measurement of sulfatides and arylsulfatase A enzymatic activity in dried blood spots.

Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.

与 SLC17A5 组织特异性嵌合相关的非典型游离唾液酸贮积症

The mitochondrial disease biomarker GDF15 is dynamic, quantifiable in saliva, and correlates with disease severity.

线粒体疾病生物标志物 GDF15 具有动态性，可在唾液中量化，并与疾病严重程度相关

Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders.

采用多种方法确诊疑似过氧化物酶体生物合成障碍患者

The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism.

SSADH 缺乏症的神经心理学特征，一种 GABA 代谢神经递质紊乱

RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency.

RNA测序驱动的诊断扩大了NBAS缺乏症的表型谱

Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction.

基因分析和多模态成像证实了 m.12148Â TÂ >Â C 线粒体变异的致病性，导致多系统功能障碍

A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency

新型 iPSC 模型揭示多种硫酸酯酶缺乏症中神经元的选择性脆弱性

Promyelinating drugs ameliorate oligodendrocyte pathologies in a mouse model of Krabbe disease

促髓鞘生成药物可改善克拉伯病小鼠模型中的少突胶质细胞病变

Reduction of neuroinflammation and seizures in a mouse model of CLN1 batten disease using the small molecule enzyme mimetic, N-Tert-butyl hydroxylamine.

利用小分子酶模拟物 N-叔丁基羟胺，减少 CLN1 巴顿病小鼠模型中的神经炎症和癫痫发作