Professor of Neurology, Emeritus, Harvard Medical School
Medical Genetics
Dr. Vivian E. Shih, MD
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Vivian Shih practices Medical Genetics. Vivian Shih is also published. She has 101 publications published. The lastest publication: "Methylmalonic aciduria in the newborn.' She is registered with Medicare and accepts Medicare payments.
Publications
- Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening.
- Alternative-pathway therapy for hyperammonemia.
- Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1.
- Fetal fatty acid oxidation defects and maternal liver disease in pregnancy.
- Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature.
- Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.
- Low vitamin B6 but not homocyst(e)ine is associated with increased risk of stroke and transient ischemic attack in the era of folic acid grain fortification.
- Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.
- Pericardial effusion in primary systemic carnitine deficiency.
- Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency.
- Inflammation, homocysteine, and vitamin B6 status after ischemic stroke.
- Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.
- Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening.
- Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.
- Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism.
- Sepsis due to Escherichia coli in neonates with galactosemia.
- Thiamine-responsive intermittent branched-chain ketoaciduria.
- A simple screening test for sulfite oxidase deficiency: detection of urinary thiosulfate by a modification of Sörbo's method.
- Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: clinical and biochemical studies.
- Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.
- Plasma and urine amino acid changes in rats treated with hypoglycin.
- Ocular and biochemical abnormalities in gyrate atrophy of the choroid and retina.
- Metabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects.
- Congenital hyperammonemic syndromes.
- Type II hyperprolinemia. Delta1-pyrroline-5-carboxylic acid dehydrogenase deficiency in cultured skin fibroblasts and circulating lymphocytes.
- Methylmalonic aciduria in the newborn.
- Hereditary pancreatitis. Nonspecificity of aminoaciduria and diagnosis of occult disease.
- Free amino acids in extracts of cultured skin fibroblasts from patients with various amino acid metabolic disorders.
- Letter: Chromatographic artifact in urine after normal human serum albumin.
- A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy.
- Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetylcoenzyme-A thiolase.
- Mapping of ornithine aminotransferase gene sequences to mouse chromosomes 7, X, and 3.
- Three novel mutations of the ornithine aminotransferase (OAT) gene in gyrate atrophy.
- Neonatal form of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis.
- An antispasticity effect of threonine in multiple sclerosis.
- Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency.
- Gyrate atrophy of the choroid and retina in a 5-year-old girl.
- Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency.
- Detection of hereditary metabolic disorders involving amino acids and organic acids.
- Brain glutamate metabolism during hypoxia and peripheral chemodenervation.
- Aminoaciduria due to vinyl-GABA administration.
- Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.
- Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
- Molybdenum cofactor biosynthesis in humans. Identification of two complementation groups of cofactor-deficient patients and preliminary characterization of a diffusibl...
- Defective lysosomal release of vitamin B12 (cb1F): a hereditary cobalamin metabolic disorder associated with sudden death.
- Relationship between central nervous system hydrogen ion regulation and amino acid metabolism in hypercapnia, II.
- Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes.
- The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy.
- Central respiratory effects of glutamine synthesis inhibition in dogs.
- Potential for the prenatal diagnosis of hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
- Prenatal diagnosis of non-ketotic hyperglycinemia.
- Lethal ornithine transcarbamylase deficiency in a female neonate.
- Pyridoxine effects on ornithine ketoacid transaminase activity in fibroblasts from carriers of two forms of gyrate atrophy of the choroid and retina.
- Molybdenum cofactor deficiency in a patient previously characterized as deficient in sulfite oxidase.
- Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.
- Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase.
- Lysinuric protein intolerance presenting as childhood osteoporosis. Clinical and skeletal response to citrulline therapy.
- Acetaminophen metabolite interferes in analysis for amino acids.
- Prenatal genetic diagnosis (second of three parts).
- Letter: Aminoacidopathies in Guam.
- Letter: Lysine metabolism in Reye''s syndrome.
- Letter: Metabolic defect in hyperornithinaemia.
- Argininosuccinase activity in amniotic-fluid cells.
- Screening for phenylketonuria.
- D-methioninuria due to DL-methionine ingestion. An artefact detected by a mass screening program for errors of amino acid metabolism.
- Epithelial hepatoblastoma associated with congenital hemihypertrophy and cystathioninuria: presentation of a case.
- Letter: Historical observation in maple syrup urine disease.
- Routine newborn screening for histidinemia. Clinical and biochemical results.
- Arginase deficiency in Macaca fascicularis. I. Arginase activity and arginine concentration in erythrocytes and liver.
- Brain organic buffers in respiratory acidosis and alkalosis.
- Diagnosis of isovaleric acidemia in cultured fibroblasts.
- Amino acid metabolism in acute renal failure: influence of intravenous essential L-amino acid hyperalimentation therapy.
- Prenatal genetic diagnosis. I.
- Galactosemia screening of newborns in Massachusetts.
- Prenatal genetic diagnosis. 3.
- Phenylalanine tolerance tests in simian primates.
- Early dietary management in an infant with argininosuccinase deficiency: preliminary report.
- A microassay for argininosuccinase in cultured cells.
- Massachusetts metabolic disorders screening program. I. Technics and results of urine screening.
- Screening of galactosemia.
- Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity.
- Studies of intestinal transport defect in Hartnup disease.
- A simple indirect method of detecting the enzyme defect in histidinemia.
- Ornithine-ketoacid transaminase activity in human skin and amniotic fluid cell culture.
- Pyridoxine-unresponsive homocystinuria.
- Soybean milk.
- Persistent mild hyperphenylalaninemia in the untreated state. A prospective study.
- Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation.
- N-acetylcysteine-cysteine disulfide excretion in the urine following N-acetylcysteine administration.
- Improved paper-chromatographic method for imino acids. Incorporation of isatin, a color reagent, into developing solvents.
- Hypermethioninemia with other hyperaminoacidemias. Studies in infants on high-protein diets.
- Transient tyrosinemia in full-term infants.
- Argininosuccinic aciduria: clinical, biochemical, anatomical and neuropathological observations.
- Homocystinuria: a report in two siblings.
- Rapid short-column chromatography of amino acids. A method for blood and urine specimens in the diagnosis and treatment of metabolic disease.
- Benign methylmalonic aciduria.
- Cystathioninuria and its origin in children with hepatoblastoma.
- The prognosis of hyperlysinemia: an interim report.
- Occurrences of methylmalonic aciduria and Hartnup disorder in the same family.
- Maternal isovaleric acidemia.
Schools
National Taiwan University College Of Medicine
Edgewater Hospital Chicago
Philadelphia General Hospital
Children39s Hospital Of Philadelphia
Massachusetts General Hospital
Doctors Specialties
- Clinical Biochemical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Education
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Children's Hospital of Philadelphia
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