Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in The Netherlands: a survey of 30 kindreds.
about
Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transportersLive cell FRET microscopy: homo- and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3)Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil"The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosisABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlationsDiagnosis of inherited metabolic disorders affecting the nervous systemMyelin and disorders that affect the formation and maintenance of this sheath.Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy.Adrenomyeloneuropathy as a cause of primary adrenal insufficiency and spastic paraparesis.Diffusion-weighted MR imaging in leukodystrophies.X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report.Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history.Leukodystrophies and genetic leukoencephalopathies in childhood: a national epidemiological study.Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation.Identification of a new fatty acid synthesis-transport machinery at the peroxisomal membrane.Komrower Lecture. Adrenoleukodystrophy: natural history, treatment and outcome.Peroxisomal disorders: overview.DNA diagnosis of X-linked adrenoleukodystrophy.Very long chain fatty acid levels in patients diagnosed with multiple sclerosis.X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.X-linked adrenoleukodystrophy: phenotype distribution and expression of ALDP in Spanish kindreds.Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.Micturitional disturbance in a patient with adrenomyeloneuropathy (AMN).Treatment of adrenoleukodystrophy with bone marrow transplantation.Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype.Linking mutated primary structure of adrenoleukodystrophy protein with X-linked adrenoleukodystrophy.Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme
P2860
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P2860
Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in The Netherlands: a survey of 30 kindreds.
description
1994 nî lūn-bûn
@nan
1994 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Predominance of the adrenomyel ...... ands: a survey of 30 kindreds.
@ast
Predominance of the adrenomyel ...... ands: a survey of 30 kindreds.
@en
Predominance of the adrenomyel ...... ands: a survey of 30 kindreds.
@nl
type
label
Predominance of the adrenomyel ...... ands: a survey of 30 kindreds.
@ast
Predominance of the adrenomyel ...... ands: a survey of 30 kindreds.
@en
Predominance of the adrenomyel ...... ands: a survey of 30 kindreds.
@nl
prefLabel
Predominance of the adrenomyel ...... ands: a survey of 30 kindreds.
@ast
Predominance of the adrenomyel ...... ands: a survey of 30 kindreds.
@en
Predominance of the adrenomyel ...... ands: a survey of 30 kindreds.
@nl
P2093
P356
P1433
P1476
Predominance of the adrenomyel ...... ands: a survey of 30 kindreds.
@en
P2093
Weverling GJ
van Geel BM
P304
P356
10.1212/WNL.44.12.2343
P407
P577
1994-12-01T00:00:00Z