Lv3
380 积分 2026-03-06 加入
Neck masses due to internal jugular vein phlebectasia: Frequency in Menkes disease and literature review of 85 pediatric subjects
13小时前
已完结
Whole genome sequencing from dried blood spots for newborn screening of Menkes disease and 36 other actionable inherited neurometabolic disorders
13小时前
已完结
Skin biopsy and microneurography disclose selective noradrenergic dysfunction due to dopamine-β-hydroxylase deficiency
3天前
已完结
Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease
4天前
已完结
Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease
7天前
已完结
Roles of catechol neurochemistry in autonomic function testing
11天前
已完结
NON-REDUNDANT ROLES OF COPPER TRANSPORTERS ATP7A AND ATP7B IN NORADRENERGIC SIGNALING
12天前
已关闭
A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease
13天前
已完结
Analysis of clinical characteristics and ATP7A gene variants in a Chinese pedigree affected with Menkes disease
13天前
已完结
Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease
13天前
已完结
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