Congenital hypomyelinating neuropathy: two patients with long-term follow-up.

Congenital hypomyelinating neuropathy: two patients with long-term follow-up.

Item
http://www.wikidata.org/entity/Q33596627
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

Congenital hypomyelinating neuropathy: two patients with long-term follow-up.

Item
http://www.wikidata.org/entity/Q33596627
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
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Congenital hypomyelinating neuropathy: two patients with long-term follow-up.
@en
P2093
P304
P31
P356
10.1016/S0887-8994(98)00138-6
P433
P478
P577
P698