X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy (Q36316914)

13 August 2017

1 reference

title

X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy (English)

1 reference

13 August 2017

van Geel BM

1

1 reference

13 August 2017

Assies J

series ordinal

2

1 reference

13 August 2017

Wanders RJ

series ordinal

3

1 reference

13 August 2017

Barth PG

series ordinal

4

1 reference

13 August 2017

language of work or name

English

0 references

publication date

1 July 1997

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

13 August 2017

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13 August 2017

63

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13 August 2017

1

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13 August 2017

4-14

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ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Nerve conduction studies in adrenomyeloneuropathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

X-linked adrenoleukodystrophy is a frequent cause of idiopathic Addison's disease in young adult male patients

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Interferon beta-1b is effective in relapsing-remitting multiple sclerosis. II. MRI analysis results of a multicenter, randomized, double-blind, placebo-controlled trial. UBC MS/MRI Study Group and the IFNB Multiple Sclerosis Study Group

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

A two-year trial of oleic and erucic acids ("Lorenzo's oil") as treatment for adrenomyeloneuropathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Thrombocytopenia induced by erucic acid therapy in patients with X-linked adrenoleukodystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in The Netherlands: a survey of 30 kindreds

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Very long chain fatty acids in X-linked adrenoleukodystrophy brain after treatment with Lorenzo's oil.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Glyceroltrioleate/glyceroltrierucate therapy in 16 patients with X-chromosomal adrenoleukodystrophy/adrenomyeloneuropathy: effect on clinical, biochemical and neurophysiological parameters

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Eighty-six cases of Addison's disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Adrenoleukodystrophy: a scoring method for brain MR observations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Brain, liver, and adipose tissue erucic and very long chain fatty acid levels in adrenoleukodystrophy patients treated with glyceryl trierucate and trioleate oils (Lorenzo's oil).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Postnatal diagnosis of peroxisomal disorders: a biochemical approach

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Altered expression of ALDP in X-linked adrenoleukodystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Clinical and therapeutic aspects of adrenoleukodystrophy and adrenomyeloneuropathy.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Mutational analysis of patients with X-linked adrenoleukodystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Komrower Lecture. Adrenoleukodystrophy: natural history, treatment and outcome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

The testis in adreno-leukodystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Peroxisomes (microbodies and related particles)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Adreno-leukodystrophy (sex-linked Schilder's disease). A pathogenetic hypothesis based on ultrastructural lesions in adrenal cortex, peripheral nerve and testis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Adrenoleukodystrophy: oleic acid lowers fibroblast saturated C22-26 fatty acids

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Familial spinocerebellar degeneration as an expression of adrenoleukodystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Peroxisomal disorders in neurology

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Effects of long-chain, saturated fatty acids on membrane microviscosity and adrenocorticotropin responsiveness of human adrenocortical cells in vitro

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Adrenoleukodystrophy in a mother and son.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Adrenoleukodystrophy: heterogeneity in two brothers

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Clinical Aspects of Adrenoleukodystrophy and Adrenomyeloneuropathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Adrenoleukodystrophy: phenotypic variability and implications for therapy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

X-linked adrenoleukodystrophy: biochemical diagnosis and enzyme defect

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Adrenomyeloneuropathy: A probable variant of adrenoleukodystrophy: II. General pathologic, neuropathologic, and biochemical aspects

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Adrenoleukodystrophy. A clinical and pathological study of 17 cases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Spastic paraplegia associated with Addison's disease: adult variant of adreno-leukodystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Histochemical characteristics of the striated inclusions of adrenoleukodystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Prenatal diagnosis of adrenoleukodystrophy by means of mutation analysis.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

High dose immunoglobulin IV treatment in adrenoleukodystrophy.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

The prenatal diagnosis of adrenoleukodystrophy. Demonstration of increased hexacosanoic acid levels in cultured amniocytes and fetal adrenal gland

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Brain tissue immunoglobulins in adrenoleukodystrophy: A comparison with multiple sclerosis and systemic lupus erythematosus

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Microbodies: constituent organelles of animal cells

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Identification of the inflammatory cells in the central nervous system of patients with adrenoleukodystrophy.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Can head injury influence the site of demyelination in adrenoleukodystrophy?

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Adult adrenoleukodystrophy: a sporadic case?

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Adrenoleukodystrophy in an adult female. A clinical, morphological, and neurochemical study.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Childhood adrenoleukodystrophy. Failure of intensive immunosuppression to arrest neurologic progression

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Adreno-leukodystrophy (adreno-testiculo-leukomyelo-neuropathic-complex).

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Dietary erucic acid therapy for X-linked adrenoleukodystrophy

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

A new dietary therapy for adrenoleukodystrophy: biochemical and preliminary clinical results in 36 patients.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Adrenomyeloneuropathy presenting as Addison's disease in childhood

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Conclusive evidence that very-long-chain fatty acids are oxidized exclusively in peroxisomes in human skin fibroblasts

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Experience on therapy of adrenoleukodystrophy and adrenomyeloneuropathy.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Very-late-onset adrenoleukodystrophy: possible precipitation of demyelination by cerebral contusion.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Brain MRI and electrophysiologic abnormalities in preclinical and clinical adrenomyeloneuropathy.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Sparse hair and multiple endocrine disorders in two women heterozygous for adrenoleukodystrophy

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

The inflammatory myelinopathy of adreno-leukodystrophy: cells, effector molecules, and pathogenetic implications

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Fatty acid abnormality in adrenoleukodystrophy

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

X-linked adrenoleukodystrophy: adult cerebral variant.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Adrenoleukodystrophy in France: an epidemiological study

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Multiple sclerosis-like syndrome in a woman heterozygous for adrenoleukodystrophy.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Gene therapy in neurology

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

A family with adult-onset cerebral adrenoleucodystrophy.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Gene therapy--promise, pitfalls, and prognosis

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

Adrenoleukodystrophy: effects of dietary restriction of very long chain fatty acids and of administration of carnitine and clofibrate on clinical status and plasma fatty acids.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169642

A fatal cause of sexual inadequacy in men: adreno-leukodystrophy

22 September 2018

1 reference

12 December 2020

Adrenoleukodystrophy. Failure of immunosuppression to prevent neurological progression

1 reference

12 December 2020

The adrenoleukomyeloneuropathy complex: expression in four generations

1 reference

12 December 2020

Abnormality of long-chain fatty acids in erythrocyte membrane sphingomyelin from patients with adrenoleukodystrophy

1 reference

12 December 2020

Fatty acid patterns in brain, fibroblast, leukocyte and body fluid lipids in adrenoleukodystrophy

1 reference

12 December 2020

Increased Synthesis of Hexacosanoic Acid (C26 :0) by Cultured Skin Fibroblasts from Patients with Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN)1

1 reference

12 December 2020

Adrenoleukomyeloneuropathy presenting as spinocerebellar degeneration

1 reference

12 December 2020

Identification of female carriers of adrenoleukodystrophy

1 reference

12 December 2020

Adrenoleukodystrophy-cerebello-brainstem dominant case

1 reference

12 December 2020

Schizophreniform psychosis and adrenomyeloneuropathy

1 reference

12 December 2020

Bone marrow transplant in adrenoleukodystrophy

1 reference

12 December 2020

Adrenoleukodystrophy: clinical, pathological and biochemical findings in two brothers with the onset of cerebral disease in adult life

1 reference

12 December 2020

Adrenoleukodystrophy mimicking multiple sclerosis

1 reference

12 December 2020

First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe

1 reference

12 December 2020

Lignoceroyl-CoASH ligase: enzyme defect in fatty acid beta-oxidation system in X-linked childhood adrenoleukodystrophy

1 reference

12 December 2020

Adrenoleukodystrophy: dietary oleic acid lowers hexacosanoate levels

1 reference

12 December 2020

X-linked adrenoleukodystrophy: defective peroxisomal oxidation of very long chain fatty acids but not of very long chain fatty acyl-CoA esters

1 reference

12 December 2020

Prenatal diagnosis of inborn errors in peroxisomal beta-oxidation

1 reference

12 December 2020

Attitudes toward presymptomatic testing and prenatal diagnosis for adrenoleukodystrophy among affected families

1 reference

12 December 2020

Failure of beta interferon therapy in X-linked adrenoleukodystrophy

1 reference

12 December 2020

[ADDISON'S DISEASE WITH CEREBRAL SCLEROSIS IN CHILDHOOD. A HEREDITARY SYNDROME TRANSMITTED THROUGH CHROMOSOME X?]

1 reference

12 December 2020

Clinical improvement of adrenoleukodystrophy following intravenous gammaglobulin therapy

1 reference

12 December 2020

MRI detects cerebral involvement in neurologically asymptomatic patients with adrenoleukodystrophy

1 reference

12 December 2020

Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation

1 reference

12 December 2020

Linkage analysis in X-linked adrenoleukodystrophy and application in post- and prenatal diagnosis

1 reference

12 December 2020

Carrier detection in X-linked adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis

1 reference

12 December 2020

Predictions of a 2-locus model for disease heterogeneity: application to adrenoleukodystrophy

1 reference

12 December 2020

Penetrating the peroxisome

1 reference

12 December 2020

Lorenzo's oil and thrombocytopenia in patients with adrenoleukodystrophy

1 reference

12 December 2020

Giant platelets in erucic acid therapy for adrenoleukodystrophy

1 reference

12 December 2020

Delay in diagnosis of X-linked adrenoleukodystrophy

1 reference

12 December 2020

Elevated plasma adrenocorticotropin concentration as evidence of limited adrenocortical reserve in patients with adrenomyeloneuropathy

1 reference

12 December 2020

[Adrenomyeloneuropathy. A frequent cause of Addison's disease]

1 reference

12 December 2020

Phenotypic heterogeneity of an adult form of adrenoleukodystrophy in monozygotic twins

1 reference

12 December 2020

Reduced stimulability of platelet surface adhesion molecules under treatment with Lorenzo's oil

1 reference

12 December 2020

Pitfalls in the prenatal diagnosis of peroxisomal beta-oxidation defects by chorionic villus sampling

1 reference

12 December 2020

Childhood cerebral form of adrenoleukodystrophy: short-term effect of bone marrow transplantation on brain MR observations

1 reference

12 December 2020

Effects of erucic acid therapy on Japanese patients with X-linked adrenoleukodystrophy

1 reference

12 December 2020

X-linked adrenoleukodystrophy presenting as neurologically pure familial spastic paraparesis

1 reference

12 December 2020

A misdiagnosis of X-linked adrenoleukodystrophy in cultured chorionic villus cells by the measurement of very long chain fatty acids

1 reference

12 December 2020

MR findings in adult-onset adrenoleukodystrophy

1 reference

12 December 2020

Peripheral nerve abnormalities in adrenomyeloneuropathy: a clinical and electrodiagnostic study

1 reference

12 December 2020

CSF findings in adrenoleukodystrophy: correlation between measures of cytokines, IgG production, and disease severity

1 reference

12 December 2020

Multislice proton magnetic resonance spectroscopic imaging in X-linked adrenoleukodystrophy

1 reference

12 December 2020

X-linked adrenoleukodystrophy in patients with idiopathic addison disease

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

Adrenomyeloneuropathy and Adrenoleukodystrophy in Two Brothers

1 reference

12 December 2020

Chorea induced by oral contraceptives

1 reference

12 December 2020

Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts

1 reference

12 December 2020

Adrenoleukodystrophy: evidence that abnormal very long chain fatty acids of brain cholesterol esters are of exogenous origin

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

Identifiers

DOI

10.1136/JNNP.63.1.4

1 reference

13 August 2017

1 reference

13 August 2017

1 reference