Adrenoleukodystrophy in a mother and son. (Q33629275)

28 July 2017

Adrenoleukodystrophy in a mother and son. (English)

1 reference

28 July 2017

Simpson RH

1

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28 July 2017

Rodda J

series ordinal

2

1 reference

28 July 2017

Reinecke CJ

series ordinal

3

1 reference

28 July 2017

language of work or name

English

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publication date

1 September 1987

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

28 July 2017

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28 July 2017

50

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28 July 2017

9

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28 July 2017

1165-1172

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Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032350

Biochemical evidence for clinically diagnosed adrenoleucodystrophy in two brothers.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032350

Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032350

The adrenal cortex in adreno-leukodystrophy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032350

The correlation between biochemical and histopathological findings in adrenoleukodystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032350

Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032350

Neonatal adrenoleukodystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032350

Fatty acid abnormality in adrenoleukodystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032350

Adrenoleukodystrophy and adrenomyeloneuropathy associated with partial adrenal insufficiency in three generations of a kindred

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032350

Adrenoleukodystrophy. Preliminary report of a connatal case. Light- and electron microscopical, immunohistochemical and biochemical findings

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032350

Adrenomyeloneuropathy: A probable variant of adrenoleukodystrophy I. Clinical and endocrinologic aspects

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032350

Adrenoleukodystrophy. A clinical and pathological study of 17 cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032350

Adrenoleukodystrophy. Electron microscopic findings

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032350

Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032350

Addison's Disease in Association with Spastic Paraplegia

30 October 2018

1 reference

12 December 2020

The manifesting carrier in Duchenne muscular dystrophy

1 reference

12 December 2020

Addison disease and cerebral sclerosis in an apparently heterozygous girl: evidence for inactivation of the adrenoleukodystrophy locus

1 reference

12 December 2020

Adrenoleukodystrophy: studies of the phenotype, genetics and biochemistry

1 reference

12 December 2020

The adrenoleukomyeloneuropathy complex: expression in four generations

1 reference

12 December 2020

Accumulation of very long chain fatty acids is common to 3 variants of adrenoleukodystrophy (ALD). "Classical" ALD, atypical ALD (female patient) and adrenomyeloneuropathy

1 reference

12 December 2020

Clinically manifesting carriers in Duchenne muscular dystrophy

1 reference

12 December 2020

Identification of female carriers of adrenoleukodystrophy

1 reference

12 December 2020

Angiokeratoma corporis diffusum. A clinical study of eight affected families

1 reference

12 December 2020

Combination of Addison's and Schilder's disease in a woman aged 43 years (author's transl)

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.50.9.1165

1 reference

28 July 2017

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28 July 2017

1 reference