Congenital hypomyelinating neuropathy: two patients with long-term follow-up.
about
Genetic spectrum of hereditary neuropathies with onset in the first year of lifeDejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review.Nerve biopsy: requirements for diagnosis and clinical value.Demyelinating prenatal and infantile developmental neuropathies.Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.Infant with inadequate feeding and weight gain, progressive respiratory difficulty, hypotonia, and weakness, with onset at birth.Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.Congenital hypomyelinating neuropathy due to a novel MPZ mutation
P2860
Q34028128-237F1FFF-7C58-4F8C-8E47-E8326CF84CA6Q34713816-05951824-D2BB-406A-B62C-B5AC9F43D62AQ36276587-2A9E6DDF-A246-489A-99CC-9CB894F4966EQ37826603-B9976EDF-B6B8-4985-8811-589A0F3D3919Q37835738-9E33670E-54F7-4F4D-9F33-AB195C214DE8Q37998518-06470960-5BD3-4DA1-9099-C6A36703F4F3Q38561514-72604D03-9BC9-45DA-A86C-AD62E55366F0Q47229931-AE6280C1-B5DC-4170-BA68-6243B82318E8Q50420610-9D1FD59D-F13D-41DE-93B7-E2C24014F44DQ51461731-74E91408-6762-419B-AF40-21C9A62BCDB8Q58184270-0C92AB85-900A-4CCE-81F6-294F2163801A
P2860
Congenital hypomyelinating neuropathy: two patients with long-term follow-up.
description
1999 nî lūn-bûn
@nan
1999 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի մարտին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Congenital hypomyelinating neuropathy: two patients with long-term follow-up.
@ast
Congenital hypomyelinating neuropathy: two patients with long-term follow-up.
@en
type
label
Congenital hypomyelinating neuropathy: two patients with long-term follow-up.
@ast
Congenital hypomyelinating neuropathy: two patients with long-term follow-up.
@en
prefLabel
Congenital hypomyelinating neuropathy: two patients with long-term follow-up.
@ast
Congenital hypomyelinating neuropathy: two patients with long-term follow-up.
@en
P2093
P1433
P1476
Congenital hypomyelinating neuropathy: two patients with long-term follow-up.
@en
P2093
P304
P356
10.1016/S0887-8994(98)00138-6
P577
1999-03-01T00:00:00Z