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Adrenoleukodystrophy-Related Protein Can Compensate Functionally for Adrenoleukodystrophy Protein Deficiency (X-ALD): Implications for Therapy

Human molecular genetics, 1999-05, Vol.8 (5), p.907-913

1999

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X-Linked Adrenoleukodystrophy (ALD): A Novel Mutation of the ALD Gene in 6 Members of a Family Presenting with 5 Different Phenotypes

Biochemical and biophysical research communications, 1994-12, Vol.205 (3), p.1638-1643

1994

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Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland

Clinical genetics, 2005-07, Vol.68 (1), p.48-54

2005

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A de novo adrenoleukodystrophy gene (ABCD1) mutation S636I without detectable ABCD1 protein and a R104C mutation with normal amounts of protein from an Austrian patient collective

Human mutation, 2000-12, Vol.16 (6), p.534-534

2000

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Refsum's disease in an Arabian family

Journal of neurology, neurosurgery and psychiatry, 2001-04, Vol.70 (4), p.564-565

2001

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High prevalence of I179S mutation in patients with late-onset metachromatic leukodystrophy

Clinical genetics, 2002-05, Vol.61 (5), p.389-390

2002

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Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice

Journal of neuroscience research, 1997-12, Vol.50 (5), p.829-843

1997

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Rolipram does not normalize very long‐chain fatty acid levels in adrenoleukodystrophy protein‐deficient fibroblasts and mice

Journal of inherited metabolic disease, 2000-09, Vol.23 (6), p.615-624

2000

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Thyroid Hormone Induction of the Adrenoleukodystrophy-Related Gene (ABCD2)

Molecular pharmacology, 2003-06, Vol.63 (6), p.1296-1303

2003

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Association of X-Linked Adrenoleukodystrophy with HLA DRB1 Alleles

Biochemical and biophysical research communications, 1995-11, Vol.216 (2), p.447-451

1995

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Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function : implications for gene therapy of X-linked adrenoleukodystrophy

Human molecular genetics, 2000-11, Vol.9 (18), p.2609-2616

2000

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Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland: Metachromatic leukodystrophy in Poland

Clinical genetics, 2005-07, Vol.68 (1), p.48-54

2005

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Multiple sclerosis-like syndrome in a woman heterozygous for adrenoleukodystrophy

European neurology, 1993, Vol.33 (5), p.390

1993

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

Journal of neurology, 1987-10, Vol.235 (1), p.1-9

1987

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Elevated sulfatide excretion in compound heterozygotes of metachromatic leukodystrophy and ASA-pseudodeficiency allele

Clinical biochemistry, 1997-06, Vol.30 (4), p.325-331

1997

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Coincidence of two novel arylsulfatase a alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: Molecular basis of phenotypic heterogeneity

Human mutation, 1999, Vol.13 (1), p.61-68

1999

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Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele

Clinical genetics, 1996-11, Vol.50 (5), p.287-292

1996

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

Acta neuropathologica. Supplementum, 1981, Vol.7, p.211

1981

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Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations

Human genetics, 1993-10, Vol.92 (4), p.421-423

1993

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A new polymorphism of arylsulfatase A within the coding region

Human genetics, 1996-09, Vol.98 (3), p.348-350

1996

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Prevalence of Arylsulfatase A Pseudodeficiency Allele in Metachromatic Leukodystrophy Patients from Poland

European neurology, 2000-01, Vol.44 (2), p.104-107

2000

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Elevated sulfatide excretion in heterozygotes of metachromatic leukodystrophy: Dependence on reduction of arylsulfatase a activity

American journal of medical genetics, 1992-11, Vol.44 (4), p.523-526

1992

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Lipidspeicherkrankheiten (Lipidosen): genetische, biochemische und klinisch-chemische Aspekte

Klinische Pädiatrie, 1986-03, Vol.198 (2), p.84-88

1986

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The cerebrohepatorenal (Zellweger) syndrome: an improved method for the biochemical diagnosis and its potential value for prenatal detection

Pediatric research, 1985-09, Vol.19 (9), p.930-933

1985

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Adrenoleukodystrophy

Orvosi hetilap, 1997-04, Vol.138 (14), p.867

1997

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Adrenoleukodystrophy-Related Protein Can Compensate Functionally for Adrenoleukodystrophy Protein Deficiency (X-ALD): Implications for Therapy

X-Linked Adrenoleukodystrophy (ALD): A Novel Mutation of the ALD Gene in 6 Members of a Family Presenting with 5 Different Phenotypes

Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland

A de novo adrenoleukodystrophy gene (ABCD1) mutation S636I without detectable ABCD1 protein and a R104C mutation with normal amounts of protein from an Austrian patient collective

Refsum's disease in an Arabian family

High prevalence of I179S mutation in patients with late-onset metachromatic leukodystrophy

Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice

Rolipram does not normalize very long‐chain fatty acid levels in adrenoleukodystrophy protein‐deficient fibroblasts and mice

Thyroid Hormone Induction of the Adrenoleukodystrophy-Related Gene (ABCD2)

Association of X-Linked Adrenoleukodystrophy with HLA DRB1 Alleles

Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function : implications for gene therapy of X-linked adrenoleukodystrophy

Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland: Metachromatic leukodystrophy in Poland

Multiple sclerosis-like syndrome in a woman heterozygous for adrenoleukodystrophy

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

Elevated sulfatide excretion in compound heterozygotes of metachromatic leukodystrophy and ASA-pseudodeficiency allele

Coincidence of two novel arylsulfatase a alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: Molecular basis of phenotypic heterogeneity

Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele

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

Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations

A new polymorphism of arylsulfatase A within the coding region

Prevalence of Arylsulfatase A Pseudodeficiency Allele in Metachromatic Leukodystrophy Patients from Poland

Elevated sulfatide excretion in heterozygotes of metachromatic leukodystrophy: Dependence on reduction of arylsulfatase a activity

Lipidspeicherkrankheiten (Lipidosen): genetische, biochemische und klinisch-chemische Aspekte

The cerebrohepatorenal (Zellweger) syndrome: an improved method for the biochemical diagnosis and its potential value for prenatal detection

Adrenoleukodystrophy

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