Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. I. Clinical and endocrinologic aspects.
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Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cellsAdrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapyAdrenoleukodystrophy: molecular genetics, pathology, and Lorenzo's oilX-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.Adrenoleukodystrophy and related disorders.Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review.Therapy of X-linked adrenoleukodystrophyAdrenoleucodystrophy: a molecular genetic study in five families.Neonatal adrenoleukodystrophyFamilial spinocerebellar degeneration as an expression of adrenoleukodystrophyAdrenoleukodystrophy in a mother and son.Adrenoleukodystrophy: heterogeneity in two brothersPeroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy.Sensory neuropathy in hereditary spastic paraplegia.A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: a clinical, biochemical, and genetic study.Nerve conduction studies in adrenomyeloneuropathy.Membrane microviscosity is increased in the erythrocytes of patients with adrenoleukodystrophy and adrenomyeloneuropathy.X-linked adrenoleukodystrophy.Color vision defects in adrenomyeloneuropathy.Effects of long-chain, saturated fatty acids on membrane microviscosity and adrenocorticotropin responsiveness of human adrenocortical cells in vitro.Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy.Adrenoleukodystrophy: phenotypic variability and implications for therapy.Neonatal adrenoleukodystrophy: clinical, pathologic, and biochemical delineation of a syndrome affecting both males and females.Adrenomyeloneuropathy as a cause of primary adrenal insufficiency and spastic paraparesis.Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy.The testis in adreno-leukodystrophy.Motor neurone disease and hyperthyroid Graves' disease: a chance association?General aspects and neuropathology of X-linked adrenoleukodystrophy.Peroxisomal disorders. A review of a recently recognized group of clinical entities.X-linked adrenoleukodystrophy: pathogenesis and treatment.Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history.Hyperkalaemic paralysis, neuropathy and persistent motor neuron discharges at rest in Addison's disease.The inherited neurodegenerative disorders of childhood: clinical assessment.Peroxisomal disorders: a newly recognised group of genetic diseases.Adrenomyeloneuropathy.Inborn errors of metabolism.Adrenomyeloneuropathy presenting in adulthood.Adrenomyeloneuropathy with bulbar palsy: A rare association.Adrenoleucodystrophy.Sparse hair and multiple endocrine disorders in two women heterozygous for adrenoleukodystrophy.
P2860
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P2860
Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. I. Clinical and endocrinologic aspects.
description
1977 nî lūn-bûn
@nan
1977年の論文
@ja
1977年学术文章
@wuu
1977年学术文章
@zh-cn
1977年学术文章
@zh-hans
1977年学术文章
@zh-my
1977年学术文章
@zh-sg
1977年學術文章
@yue
1977年學術文章
@zh
1977年學術文章
@zh-hant
name
Adrenomyeloneuropathy: a proba ...... al and endocrinologic aspects.
@en
type
label
Adrenomyeloneuropathy: a proba ...... al and endocrinologic aspects.
@en
prefLabel
Adrenomyeloneuropathy: a proba ...... al and endocrinologic aspects.
@en
P2093
P356
P1433
P1476
Adrenomyeloneuropathy: a proba ...... al and endocrinologic aspects.
@en
P2093
P304
P356
10.1212/WNL.27.12.1107
P407
P577
1977-12-01T00:00:00Z