Search Results - "SHIH, Vivian E"

Fetal fatty acid oxidation defects and maternal liver disease in pregnancy by BROWNING, Marsha F, LEVY, Harvey L, WILKINS-HAUG, Louise E, LARSON, Cecilia, SHIH, Vivian E

“…The objective was to evaluate the relationships between all types of fetal fatty acid oxidation defects and maternal liver disease, including acute fatty liver…”
Get full text

Alternative-Pathway Therapy for Hyperammonemia by Shih, Vivian E

“…Ammonia is a toxic compound produced in the body from the catabolism of amino acids and protein. Hyperammonemia can damage muscle and brain. 1 The body…”
Get full text

Long-term follow-up of four patients affected by HHH syndrome by Kim, Sook Z., Song, Wung J., Nyhan, William L., Ficicioglu, Can, Mandell, Roseann, Shih, Vivian E.

“…In hyperornithinemia–hyperammonemia–homocitrullinemia (HHH) syndrome, impaired ornithine transport across the mitochondrial membrane causes ornithine…”
Get full text

Spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening by Hsu, Ho-Wen, Zytkovicz, Thomas H, Comeau, Anne Marie, Strauss, Arnold W, Marsden, Deborah, Shih, Vivian E, Grady, George F, Eaton, Roger B

“…Our goal was to describe the clinical spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by routine newborn screening and assess factors…”
Get full text

Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1 by Zeng, Wen‐Qi, Gao, Hanlin, Brueton, Louise, Hutchin, Tim, Gray, George, Chakrapani, Anupam, Olpin, Simon, Shih, Vivian E.

“…We report on the first case of fumarase deficiency (FD) caused by uniparental isodisomy. An affected patient was found to be homozygous for the P131R mutation…”
Get full text

Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress by Waisbren, Susan E, Albers, Simone, Amato, Steve, Ampola, Mary, Brewster, Thomas G, Demmer, Laurie, Eaton, Roger B, Greenstein, Robert, Korson, Mark, Larson, Cecilia, Marsden, Deborah, Msall, Michael, Naylor, Edwin W, Pueschel, Siegfried, Seashore, Margretta, Shih, Vivian E, Levy, Harvey L

“…CONTEXT Tandem mass spectrometry now allows newborn screening for more than 20 biochemical genetic disorders. Questions about the effectiveness and risks of…”
Get full text

Isolated Sulfite Oxidase Deficiency: A Case Report With a Novel Mutation and Review of the Literature by Tan, Wen-Hann, Eichler, Florian S, Hoda, Sadaf, Lee, Melissa S, Baris, Hagit, Hanley, Catherine A, Grant, P. Ellen, Krishnamoorthy, Kalpathy S, Shih, Vivian E

“…Isolated sulfite oxidase deficiency is a rare but devastating neurologic disease that usually presents in early infancy with seizures and alterations in muscle…”
Get full text

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 by Kelly, Peter J, Shih, Vivian E, Kistler, J Philip, Barron, Megan, Lee, Hang, Mandell, Roseann, Furie, Karen L

“…The introduction of cereal grain folic acid fortification in 1998 has reduced homocyst(e)ine (tHcy) concentrations in the US population. We performed a…”
Get full text

Proton Magnetic Resonance Spectroscopy and Diffusion-Weighted Imaging in Isolated Sulfite Oxidase Deficiency by Eichler, Florian, Tan, Wen-Hann, Shih, Vivian E., Grant, P. Ellen, Krishnamoorthy, Kalpathy

“…Isolated sulfite oxidase deficiency is a rare autosomal recessive disorder of the newborn that can be mistaken for neonatal asphyxia. Diffusion-weighted…”
Get full text

Arginase deficiency with lethal neonatal expression: Evidence for the glutamine hypothesis of cerebral edema by Picker, Jonathan D., Puga, Ana C., Levy, Harvey L., Marsden, Deborah, Shih, Vivian E., DeGirolami, Umberto, Ligon, Keith L., Cederbaum, Stephen D., Kern, Rita M., Cox, Gerald F.

“…We describe a rare and lethal case of arginase deficiency in a 2-day-old female infant with encephalopathy and cerebral edema. The levels of glutamine and…”
Get full text

Pericardial effusion in primary systemic carnitine deficiency by Wattanasirichaigoon, Duangrurdee, Khowsathit, Pongsak, Visudtibhan, Anannit, Suthutvoravut, Umaporn, Charoenpipop, Dussadee, Kim, Sook Z., Levy, Harvey L., Shih, Vivian E.

“…Summary A patient with pericardial effusion and a complicated presentation of primary systemic carnitine deficiency (PSCD) is described. This is the first case…”
Get full text

Vascular endothelial function in cyclosporine and tacrolimus treated renal transplant recipients by OVUWORIE, Cyril A, FOX, Ervin R, CHOW, Chi-Ming, PASCUAL, Manuel, SHIH, Vivian E, PICARD, Michael H, TOLKOFF-RUBIN, Nina E

Get full text

Carbamyl phosphate synthetase 1 deficiency: A destructive encephalopathy by Takeoka, Masanori, Soman, Teesta B, Shih, Vivian E, Caviness, Verne S, Krishnamoorthy, Kalpathy S

“…Carbamyl phosphate synthetase I is a urea cycle enzyme. Severe deficiency of carbamyl phosphate synthetase I presents in the neonatal period as hyperammonemic…”
Get full text

Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress by Waisbren, Susan E, Albers, Simone, Amato, Steve, Ampola, Mary, Brewster, Thomas G, Demmer, Laurie, Eaton, Roger B, Greenstein, Robert, Korson, Mark, Larson, Cecilia, Marsden, Deborah, Msall, Michael, Naylor, Edwin W, Pueschel, Siegfried, Seashore, Margretta, Shih, Vivian E, Levy, Harvey L

“…It is now possible, using tandem mass spectrometry, to screen newborn infants for more than 20 biochemical disorders of genetic origin. Before screening is…”
Get full text

Tandem Mass Spectrometric Analysis for Amino, Organic, and Fatty Acid Disorders in Newborn Dried Blood Spots by Zytkovicz, Thomas H, Fitzgerald, Eileen F, Marsden, Deborah, Larson, Cecilia A, Shih, Vivian E, Johnson, Donna M, Strauss, Arnold W, Comeau, Anne Marie, Eaton, Roger B, Grady, George F

“…Abstract Background: Tandem mass spectrometry (MS/MS) is rapidly being adopted by newborn screening programs to screen dried blood spots for >20 markers of…”
Get full text

Tandem Mass Spectrometric Analysis for Amino, Organic, and Fatty Acid Disorders in Newborn Dried Blood Spots: A Two-Year Summary from the New England Newborn Screening Program by Zytkovicz, Thomas H, Fitzgerald, Eileen F, Marsden, Deborah, Larson, Cecilia A, Shih, Vivian E, Johnson, Donna M, Strauss, Arnold W, Comeau, Anne Marie, Eaton, Roger B, Grady, George F

“…Tandem mass spectrometry (MS/MS) is rapidly being adopted by newborn screening programs to screen dried blood spots for >20 markers of disease in a single…”
Get full text

Benign methylmalonic aciduria by Ledley, F D, Levy, H L, Shih, V E, Benjamin, R, Mahoney, M J

“…Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency is usually considered to be a serious, often life-threatening disease. However, through…”
Get more information

Sepsis due to Escherichia coli in neonates with galactosemia by Levy, H L, Sepe, S J, Shih, V E, Vawter, G F, Klein, J O

Get more information

Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism by Shih, V E, Abroms, I F, Johnson, J L, Carney, M, Mandell, R, Robb, R M, Cloherty, J P, Rajagopalan, K V

“…Study of a 4 1/2-year-old boy with the unusual combination of acute infantile hemiplegia, ectopia lentis and the absence of homocystinuria showed large amounts…”
Get more information

Lysinuric protein intolerance presenting as childhood osteoporosis. Clinical and skeletal response to citrulline therapy by Carpenter, T O, Levy, H L, Holtrop, M E, Shih, V E, Anast, C S

Get more information