Published in Am J Hum Genet on March 01, 1988
Normal and abnormal color-vision genes. Am J Hum Genet (1988) 2.61
The red-green visual pigment gene region in adrenoleukodystrophy. Am J Hum Genet (1990) 0.96
Color vision defects in adrenomyeloneuropathy. Am J Hum Genet (1989) 0.90
Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations. Am J Hum Genet (1991) 0.90
Inherited peroxisomal disorders involving the nervous system. Arch Dis Child (1988) 0.86
Adrenoleucodystrophy: a molecular genetic study in five families. J Med Genet (1990) 0.81
Chromosomal rearrangement segregating with adrenoleukodystrophy: a molecular analysis. Proc Natl Acad Sci U S A (1993) 0.79
Chromosomal rearrangement segregating with adrenoleukodystrophy: associated changes in color vision. Proc Natl Acad Sci U S A (1993) 0.77
DNA diagnosis of X-linked adrenoleukodystrophy. J Inherit Metab Dis (1995) 0.75
Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol (1975) 503.08
Amplification and characterization of a beta-globin gene synthesized in vitro. Cell (1976) 14.99
Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A (1977) 13.87
Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. Science (1986) 8.23
Molecular genetics of inherited variation in human color vision. Science (1986) 5.28
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. Proc Natl Acad Sci U S A (1981) 2.83
Genetic linkage between X-chromosome markers and bipolar affective illness. Nature (1987) 2.44
Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy. Ann Neurol (1984) 1.83
Assignment of the gene for dyskeratosis congenita to Xq28. Hum Genet (1986) 1.62
Colour vision in blue-cone 'monochromacy'. J Physiol (1971) 1.50
Genetical linkage between the loci for glucose-6-phosphate dehydrogenase deficiency and colour-blindness in American Negroes. Ann Hum Genet (1962) 1.50
Characterization of five partial deletions of the factor VIII gene. Proc Natl Acad Sci U S A (1987) 1.45
Linkage of adrenoleukodystrophy to a polymorphic DNA probe. Ann Neurol (1987) 1.20
Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene. J Med Genet (1986) 1.06
Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome. J Med Genet (1986) 1.03
Studies of simian virus 40 DNA. VII. A cleavage map of the SV40 genome. J Mol Biol (1973) 9.30
Dendritic anomalies in disorders associated with mental retardation. Cereb Cortex (2000) 3.69
Trousseau's syndrome and other manifestations of chronic disseminated coagulopathy in patients with neoplasms: clinical, pathophysiologic, and therapeutic features. Medicine (Baltimore) (1977) 3.20
Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. Proc Natl Acad Sci U S A (1981) 2.83
Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. Nat Genet (1995) 2.62
MR findings in adult-onset adrenoleukodystrophy. AJNR Am J Neuroradiol (1995) 2.42
A unified nomenclature for peroxisome biogenesis factors. J Cell Biol (1996) 2.25
Visual evoked potentials in adrenoleukodystrophy: a trial with glycerol trioleate and Lorenzo oil. Ann Neurol (1993) 2.07
Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Ann Neurol (1999) 2.06
Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy. Neurology (2003) 1.92
Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy. Ann Neurol (1984) 1.83
Studies of SV40 DNA. VI. Cleavage of SV40 DNA by restriction endonuclease from Hemophilus parainfluenzae. Virology (1973) 1.81
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids. Neurology (1981) 1.81
Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy. Neurology (2005) 1.77
Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy. Proc Natl Acad Sci U S A (1984) 1.75
The nucleic acid of an SV40-like virus isolated from a patient with progressive multifocal leukoencephalopathy. Virology (1973) 1.71
Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol (2001) 1.71
Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts. Ann Neurol (1980) 1.71
Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation. Am J Dis Child (1969) 1.65
The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. EMBO J (1996) 1.62
Human cell transformation by simian virus 40--a review. In Vitro (1981) 1.56
The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis. N Engl J Med (1984) 1.56
Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. Am J Med Genet (1986) 1.47
Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes. Am J Med Genet (1998) 1.47
Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells. Hum Genet (1992) 1.46
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Hum Mutat (2001) 1.45
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. Nat Genet (1997) 1.44
Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders. J Cell Sci (1995) 1.40
Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids. Johns Hopkins Med J (1982) 1.39
Prolonged survival and remyelination after hematopoietic cell transplantation in the twitcher mouse. Science (1984) 1.39
Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis. Brain Pathol (1998) 1.35
Holt-Oram syndrome. J Pediatr (1979) 1.35
Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. Am J Hum Genet (1998) 1.31
Metabolic control of peroxisome abundance. J Cell Sci (1999) 1.31
Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect. Am J Hum Genet (1993) 1.29
The inflammatory myelinopathy of adreno-leukodystrophy: cells, effector molecules, and pathogenetic implications. J Neuropathol Exp Neurol (1992) 1.27
Gastric acidity in cholera and noncholera diarrhoea. Bull World Health Organ (1972) 1.23
Adrenoleukodystrophy: studies of the phenotype, genetics and biochemistry. Johns Hopkins Med J (1980) 1.23
Adrenoleukodystrophy: impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts, and amniocytes. Pediatr Res (1984) 1.21
Linkage of adrenoleukodystrophy to a polymorphic DNA probe. Ann Neurol (1987) 1.20
A mouse model for X-linked adrenoleukodystrophy. Proc Natl Acad Sci U S A (1997) 1.20
Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy. Ann Neurol (2001) 1.19
Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy. J Pediatr (1976) 1.19
Adrenomyeloneuropathy: a neuropathologic review featuring its noninflammatory myelopathy. J Neuropathol Exp Neurol (2000) 1.17
Solubilization and partial purification of steroid sulfatase from rat liver: characterization of estrone sulfatase. Arch Biochem Biophys (1976) 1.16
Peroxisomal defects in neonatal-onset and X-linked adrenoleukodystrophies. Science (1985) 1.15
Leukodystrophies: recent developments in genetics, molecular biology, pathogenesis and treatment. Curr Opin Neurol (2001) 1.15
Ceramidase and ceramide synthesis in human kidney and cerebellum. Description of a new alkaline ceramidase. Biochim Biophys Acta (1975) 1.15
Plasma and red blood cell fatty acids in peroxisomal disorders. Neurochem Res (1999) 1.11
Identification of a fatty acid delta6-desaturase deficiency in human skin fibroblasts. J Lipid Res (2001) 1.10
Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. Am J Hum Genet (1999) 1.08
Altered expression of ALDP in X-linked adrenoleukodystrophy. Am J Hum Genet (1995) 1.08
Ceramidase deficiency in Farber's disease (lipogranulomatosis). Science (1972) 1.08
Hyperuricemia in Down's syndrome. J Clin Endocrinol Metab (1968) 1.07
Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy. Mol Genet Metab (1999) 1.07
A new dietary therapy for adrenoleukodystrophy: biochemical and preliminary clinical results in 36 patients. Ann Neurol (1987) 1.06
Adrenoleukodystrophy: impaired oxidation of long chain fatty acids in cultured skin fibroblasts an adrenal cortex. Biochem Biophys Res Commun (1981) 1.06
High concentration of hexacosanoate in cultured skin fibroblast lipids from adrenoleukodystrophy patients. Biochem Biophys Res Commun (1978) 1.05
Familial X-linked Addison disease as an expression of adrenoleukodystrophy (ALD): elevated C26 fatty acid in cultured skin fibroblasts. Neurology (1982) 1.05
Bone marrow transplantation for infantile ceramidase deficiency (Farber disease). Bone Marrow Transplant (2000) 1.05
Nerve conduction studies in adrenomyeloneuropathy. J Neurol Neurosurg Psychiatry (1996) 1.05
Brain lipids, proteolipids, and free amino acids in maple syrup urine disease. J Neurochem (1966) 1.03
Diffusion tensor brain MR imaging in X-linked cerebral adrenoleukodystrophy. Neurology (2001) 1.03
New approaches in peroxisomal disorders. Dev Neurosci (1987) 1.03
Development of myelin in inherited disorders of amino acid metabolism. Arch Neurol (1968) 1.02
A souble 17 beta-hydroxysteroid dehydrogenase from human placenta. The binding of pyridine nucleotides and steroids. Biochemistry (1969) 1.01
Peroxisome assembly mutations in humans: structural heterogeneity in Zellweger syndrome. J Cell Physiol (1992) 1.01
Solvent vapor abuse leukoencephalopathy. Comparison to adrenoleukodystrophy. J Neuropathol Exp Neurol (1994) 1.00
Cataplexy in variant forms of Niemann-Pick disease. Ann Neurol (1982) 1.00
Peroxisomal straight-chain Acyl-CoA oxidase and D-bifunctional protein are essential for the retroconversion step in docosahexaenoic acid synthesis. J Biol Chem (2001) 1.00
Potential environmental and host participants in the early white matter lesion of adreno-leukodystrophy: morphologic evidence for CD8 cytotoxic T cells, cytolysis of oligodendrocytes, and CD1-mediated lipid antigen presentation. J Neuropathol Exp Neurol (2001) 0.99
Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction. J Inherit Metab Dis (1986) 0.99
X-linked adrenoleukodystrophy: the role of contrast-enhanced MR imaging in predicting disease progression. AJNR Am J Neuroradiol (2000) 0.99
Stimulation of acid ceramidase activity by saposin D. Arch Biochem Biophys (1994) 0.99
The peroxisome deficient PEX2 Zellweger mouse: pathologic and biochemical correlates of lipid dysfunction. J Mol Neurosci (2001) 0.99
Three forms of dominant amyloid neuropathy. Johns Hopkins Med J (1981) 0.98
A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects. Eur J Pediatr (1985) 0.97
Neuroimaging studies in Rett syndrome. Brain Dev (2001) 0.96
Modification of the schedule of myelination in the rat by early nutritional deprivation. Pediatrics (1966) 0.96
Characterization of "heavy" and "light" SV40-like particles from a patient with PML. Virology (1974) 0.96
A fibroblast cell line defective in alkyl-dihydroxyacetone phosphate synthase: a novel defect in plasmalogen biosynthesis. Proc Natl Acad Sci U S A (1997) 0.95
Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family. Genomics (1992) 0.95
Non-infantile neuronopathic Gaucher's disease: a clinicopathologic study. Neurology (1983) 0.95
The nosology of mental retardation: including the report of a survey of 1378 mentally retarded individuals at the Walter E. Fernald State School. Birth Defects Orig Artic Ser (1971) 0.94
Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts. J Pediatr (1976) 0.94
Identification of the inflammatory cells in the central nervous system of patients with adrenoleukodystrophy. Ann Neurol (1985) 0.94
Rett syndrome--natural history in 70 cases. Am J Med Genet Suppl (1986) 0.94
Peroxisomal disorders. J Pediatr (1986) 0.94
A therapeutic trial of amniotic epithelial cell implantation in patients with lysosomal storage diseases. Am J Med Genet (1985) 0.94
Adrenoleukodystrophy: evidence that abnormal very long chain fatty acids of brain cholesterol esters are of exogenous origin. Biochem Biophys Res Commun (1980) 0.93
MRI and proton MRSI in women heterozygous for X-linked adrenoleukodystrophy. Neurology (2003) 0.93
Bone marrow transplant in adrenoleukodystrophy. Neurology (1984) 0.93
Cytosolic compartmentalization of hepatic alanine:glyoxylate aminotransferase in patients with aberrant peroxisomal biogenesis and its effect on oxalate metabolism. J Inherit Metab Dis (1994) 0.93
Unusual cardiac, renal and pulmonary involvement in Gaucher's disease. Intersitial glucocerebroside accumulation, pulmonary hypertension and fatal bone marrow embolization. Am J Med (1978) 0.93
Neonatal adrenoleukodystrophy: clinical, pathologic, and biochemical delineation of a syndrome affecting both males and females. Am J Pathol (1982) 0.93
Branched-chain and odd-numbered fatty acids and aldehydes in the nervous system of a patient with deranged vitamin B 12 metabolism. J Lipid Res (1973) 0.92
Spectroscopic evidence of cerebral axonopathy in patients with "pure" adrenomyeloneuropathy. Neurology (2005) 0.92
Phospholipids in X-linked adrenoleukodystrophy white matter: fatty acid abnormalities before the onset of demyelination. J Neurol Sci (1992) 0.92
Striated adrenocortical cells in cerebro-hepato-renal (Zellweger) syndrome. Virchows Arch A Pathol Anat Histopathol (1983) 0.91