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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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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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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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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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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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Multiple sclerosis-like syndrome in a woman heterozygous for adrenoleukodystrophy

European neurology, 1993, Vol.33 (5), p.390-392

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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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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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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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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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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Unusual orthochromatic leukodystrophy with epitheloid cells (Norman-Gullotta) : increase of very long chain fatty acids in brain discloses a peroxisomal disorder

Acta neuropathologica, 1993, Vol.86 (2), p.187-189

1993

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Very long chain fatty acids in genetic peroxisomal disease fibroblasts: Differences between the cerebro-hepato-renal (Zellweger) syndrome and adrenoleukodystrophy variants

Clinica chimica acta, 1986-11, Vol.161 (1), p.81-90

1986

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Investigations of micro-organic brain damage (MOBD) in heterozygotes of metachromatic leukodystrophy

American journal of medical genetics, 2002-07, Vol.110 (4), p.315-319

2002

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Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with met achromatic leukodystrophy

American journal of medical genetics, 1997, Vol.69 (3), p.335-340

1997

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Phytanic acid and very long chain fatty acids in genetic peroxisomal disorders

Journal of clinical chemistry and clinical biochemistry, 1989-05, Vol.27 (5), p.309

1989

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

Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland

Refsum's disease in an Arabian family

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

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

Multiple sclerosis-like syndrome in a woman heterozygous for adrenoleukodystrophy

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

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

Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations

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

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

Unusual orthochromatic leukodystrophy with epitheloid cells (Norman-Gullotta) : increase of very long chain fatty acids in brain discloses a peroxisomal disorder

Very long chain fatty acids in genetic peroxisomal disease fibroblasts: Differences between the cerebro-hepato-renal (Zellweger) syndrome and adrenoleukodystrophy variants

Investigations of micro-organic brain damage (MOBD) in heterozygotes of metachromatic leukodystrophy

Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with met achromatic leukodystrophy

Phytanic acid and very long chain fatty acids in genetic peroxisomal disorders

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