scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1005695013 |
P356 | DOI | 10.1007/BF01799844 |
P698 | PubMed publication ID | 8892025 |
P2093 | author name string | R J Wanders | |
B M van Geel | |||
P G Barth | |||
P A Mooyer | |||
P A Bolhuis | |||
S Kemp | |||
J L Mandel | |||
P Aubourg | |||
P2860 | cites work | Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters | Q24321939 |
Altered expression of ALDP in X-linked adrenoleukodystrophy | Q24671055 | ||
Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein | Q24672329 | ||
Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome | Q28207783 | ||
Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy | Q28237129 | ||
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein | Q28243537 | ||
The 70-kDa peroxisomal membrane protein is a member of the Mdr (P-glycoprotein)-related ATP-binding protein superfamily | Q28255277 | ||
Adrenoleukodystrophy: phenotypic variability and implications for therapy | Q35848823 | ||
Two intronic mutations in the adrenoleukodystrophy gene | Q48075859 | ||
Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations | Q48080771 | ||
Penetrating the peroxisome | Q59072832 | ||
Predictions of a 2-locus model for disease heterogeneity: application to adrenoleukodystrophy | Q67986208 | ||
Peroxisomal very long-chain fatty acid beta-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders | Q69001835 | ||
Peroxisomal beta-oxidation enzyme proteins in the Zellweger syndrome | Q70069331 | ||
Identification of female carriers of adrenoleukodystrophy | Q71769644 | ||
The protein coded by the X-adrenoleukodystrophy gene is a peroxisomal integral membrane protein | Q72430225 | ||
Phenotypic heterogeneity of an adult form of adrenoleukodystrophy in monozygotic twins | Q72903023 | ||
Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts | Q73117534 | ||
P433 | issue | 5 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 667-674 | |
P577 | publication date | 1996-01-01 | |
P1433 | published in | Journal of Inherited Metabolic Disease | Q6295359 |
P1476 | title | ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy | |
P478 | volume | 19 |
Q38867787 | Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history |
Q97074418 | Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor |
Q36315284 | Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation |
Q33948568 | Disorders related to peroxisomal membranes |
Q38331491 | Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy. |
Q34196103 | Human peroxisomal disorders |
Q77596072 | Lipid metabolism in peroxisomes in relation to human disease |
Q92035350 | Mutagenesis separates ATPase and thioesterase activities of the peroxisomal ABC transporter, Comatose |
Q53994537 | Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics. |
Q33544235 | The neurobiology of X-linked adrenoleukodystrophy, a demyelinating peroxisomal disorder |
Q46981518 | Uptake and metabolism of plasma-derived erucic acid by rat brain |
Q36316914 | X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy |
Q43448425 | X-linked adrenoleukodystrophy in women: a cross-sectional cohort study. |
Q33607735 | X-linked adrenoleukodystrophy: genes, mutations, and phenotypes |
Q47757824 | X-linked adrenoleukodystrophy: improved prenatal diagnosis using both biochemical and immunological methods |
Q38239213 | X-linked adrenoleukodystrophy: pathogenesis and treatment. |
Q44516117 | X-linked adrenoleukodystrophy: phenotype distribution and expression of ALDP in Spanish kindreds |
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