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Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families.
Uridine monophosphate (UMP) synthase is a bifunctional enzyme catalyzing the last two steps of de novo pyrimidine biosynthesis, orotate phosphoribosyltransferase (OPRT) and orotidine-5'-monophosphateExpand
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Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism
Congenital hyperinsulinism is a rare pancreatic endocrine cell disorder that has been categorized histologically into diffuse and focal forms. In focal hyperinsulinism, the pancreas contains a focusExpand
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Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs.
Two types of partial cDNAs encoding human acid sphingomyelinase (EC 3.1.4.12; ASM) were recently isolated from fibroblast and placental cDNA libraries (Quintern, L. E., Schuchman, E.H., Levran, O.,Expand
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Molecular cloning of a cDNA encoding human histidase.
We isolated overlapping cDNA clones encoding human histidase (histidine ammonia-lyase) from a human lambda gt10 library. The cDNA predicted a 657 amino acid protein of 72,651 Da. The human histadaseExpand
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Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic
The deficient activity of the human lysosomal hydrolase, acid sphingomyelinase (ASM, EC 3.1.4.12), results in the neuronopathic (Type A) and non-neuronopathic (Type B) forms of Niemann-Pick diseaseExpand
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Molecular cloning and structural characterization of the human histidase gene (HAL).
Histidase (EC 4.3.1.3) is a cytosolic enzyme that catalyzes the nonoxidative deamination of histidine to urocanic acid. Histidinemia, resulting from reduced histidase activity as reported inExpand
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Noncardiogenic pulmonary edema as the chief manifestation of a pheochromocytoma: a case report of MEN 2A with pedigree analysis of the RET proto-oncogene.
Pheochromocytomas are rare neoplasias of the adrenal medulla which generally present with paroxysmal or sustained hypertension. Cardiogenic pulmonary edema is a common feature of these tumors, butExpand
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Hereditary orotic aciduria heterozygotes accompanied with neurological symptoms.
We report a family with hereditary orotic aciduria heterozygotes. A 3-year-old boy who had been diagnosed as having cerebral palsy and mental retardation presented himself with an increase inExpand
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Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene
Histidinemia (MIM235800) is characterized by elevated histidine in body fluids and decreased urocanic acid in blood and skin and results from histidase (histidine ammonia lyase, EC 4.3.1.3)Expand
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Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts.
Acid sphingomyelinase (sphingomyelin phosphodiesterase, EC 3.1.4.12) was purified from human urine and 12 tryptic peptides were microsequenced (128 residues). Based on regions of minimal codonExpand
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