Výsledky vyhledávání - "Betty Y.L. Hsu"

Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome

Autor: Andrea Kelly, Charles A. Stanley, Betty Y.L. Hsu, Paul S. Thornton, Cheryl R. Greenberg, Louise A. Dilling

Publikováno v: The Journal of Pediatrics. 138:383-389

Objective: Because the hyperinsulinism/hyperammonemia (HI/HA) syndrome is associated with gain of function mutations in the leucine-stimulated insulin secretion pathway, we examined whether protein feeding or fasting was responsible for hypoglycemia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1ca0d4e084aaf51d0459292414058e7
https://doi.org/10.1067/mpd.2001.111818

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Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Clinical Course and Description of Causal Mutations in Two Patients

Autor: Charles A. Stanley, Andrew A. M. Morris, Marie-France Robert, Patti Quant, Lyudmila Ashmarina, James V. Leonard, Dmitriy A. Vinarov, Betty Y.L. Hsu, Youssef Boukaftane, Henry M. Miziorko, G. N. Thompson, Grant A. Mitchell, Luigi Bouchard, Shupei Wang, Avihu Boneh

Publikováno v: Scopus-Elsevier

Hereditary deficiency of mitochondrial HMG-CoA synthase (mHS, OMIM 600234) is a poorly defined, treatable, probably underdiagnosed condition that can cause episodes of severe hypoketotic hypoglycemia. We present clinical follow-up and molecular analy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7005490af0872b211ccc2bb586a759bf
https://doi.org/10.1203/00006450-200103000-00005

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Hyperinsulinism and Hyperammonemia in Infants with Regulatory Mutations of the Glutamate Dehydrogenase Gene

Autor: Enrico Zammarchi, Nancy J. Hopwood, Barry H. Rich, Charles A. Stanley, Mortimer Poncz, Betty Y.L. Hsu, Alberto Burlina, Yen K. Lieu, Kusiel Perlman, Cheryl R. Greenberg

Publikováno v: New England Journal of Medicine. 338:1352-1357

A new form of congenital hyperinsulinism characterized by hypoglycemia and hyperammonemia was described recently. We hypothesized that this syndrome of hyperinsulinism and hyperammonemia was caused by excessive activity of glutamate dehydrogenase, wh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e47667bc484abcc94ce6119533e0e5a
https://doi.org/10.1056/nejm199805073381904

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First prenatal diagnosis of the carnitine transporter defect

Autor: Charles A. Stanley, K. G. Sim, Judith Hammond, John Christodoulou, Betty Y.L. Hsu, Siak Hong Teo, Bridget Wilcken, K.C. Lau, Brian Watson

Publikováno v: American Journal of Medical Genetics. 66:21-24

We report the first attempt at prenatal diagnosis of the carnitine transporter defect in a fetus at high risk of having the disorder. Analysis of cultured CVS after prolonged culture predicted that the fetus was not affected but might be heterozygous

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2700025267bddc7a1d140577689c3a15
https://doi.org/10.1002/(sici)1096-8628(19961202)66:1<21::aid-ajmg5>3.0.co

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Effects of a GTP-insensitive mutation of glutamate dehydrogenase on insulin secretion in transgenic mice

Autor: Andrea Kelly, Adam Lazarow, Franz M. Matschinsky, Betty Y.L. Hsu, Yevgeny Daikhin, Ilana Nissim, Jae Kwagh, Marc Yudkoff, Itzhak Nissim, Heather W. Collins, Charles A. Stanley, Andrea Matter, Tom J. Petty, Changhong Li, Habiba Najafi, Courtney MacMullen

Publikováno v: The Journal of biological chemistry. 281(22)

Glutamate dehydrogenase (GDH) plays an important role in insulin secretion as evidenced in children by gain of function mutations of this enzyme that cause a hyperinsulinism-hyperammonemia syndrome (GDH-HI) and sensitize beta-cells to leucine stimula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a551c0a4f8a4da9e42d08db531cd9947
https://pubmed.ncbi.nlm.nih.gov/16574664

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Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency

Autor: Ljerka Cvitanovic-Sojat, Arupa Ganguly, Samantha Koo-McCoy, Ingrid Tein, Betty Y.L. Hsu, Stephen D. Cederbaum, Charles A. Stanley, Eric Vilain, Katrina M. Dipple

Publikováno v: Molecular genetics and metabolism. 77(3)

Three older patients were diagnosed with systemic carnitine deficiency in childhood nearly a generation ago and have together been treated for more than 50 patient years. Treatment improved tissue carnitine stores (proven in two) and eliminated most

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f9ea0089bb2aedba06c03859e355a06
https://pubmed.ncbi.nlm.nih.gov/12409266

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Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency

Autor: Ferdinando Palmieri, Heidi S. Harvie, Arupa Ganguly, Charles A. Stanley, Ronald A. Chalmers, Vito Iacobazzi, Jean-Marie Saudubray, Zhili Wang, Betty Y.L. Hsu

Publikováno v: Molecular genetics and metabolism. 74(1-2)

This report describes three infants with genetic defects of carnitine-acylcarnitine translocase (CACT), an inner mitochondrial membrane carrier that is essential for long-chain fatty acid oxidation. Two of the patients were of European and Chinese or

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2c384adc185d8e1ee54bf9799b14490
https://pubmed.ncbi.nlm.nih.gov/11592821

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Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing Investigators

Autor: Karen Kutyna, Mortimer Poncz, Jeffrey E. Ming, Charles A. Stanley, Betty Y.L. Hsu, Jie Fang, Ben Glaser

Publikováno v: Diabetes. 49(4)

Glutamate dehydrogenase (GDH) is allosterically activated by the amino acid leucine to mediate protein stimulation of insulin secretion. Children with the hyperinsulinism/hyperammonemia (HI/HA) syndrome have symptomatic hypoglycemia plus persistent e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daedbf2913d835698ea5b2876bf61fe5
https://pubmed.ncbi.nlm.nih.gov/10871207

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Renal brush border membrane lipid composition in Basenji dogs with spontaneous idiopathic Fanconi syndrome

Autor: Elizabeth A. Fenstermacher, Susanne L. Wehrli, Michael J. Palmieri, Pamela D. McNamara, Kenneth C. Bovee, John R. Yandrasitz, Stanton Segal, Claire T. Rea, Betty Y.L. Hsu

Publikováno v: Metabolism: clinical and experimental. 43(9)

To comprehend the renal defect underlying idiopathic Fanconi syndrome in the Basenji dog, we have focused on delineating the lipid profiles of renal brush border membranes isolated from affected and normal Basenji dogs to establish any physical or co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::196e4a06f97e62c088188152fcbe21c9
https://pubmed.ncbi.nlm.nih.gov/8084281

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Membrane fluidity and sodium transport by renal membranes from dogs with spontaneous idiopathic Fanconi syndrome

Autor: Kenneth C. Bovee, Pamela D. McNamara, Stephen G. Mahoney, Stanton Segal, Claire T. Rea, Betty Y.L. Hsu, Elizabeth A. Fenstermacher

Publikováno v: Metabolism: clinical and experimental. 41(3)

To comprehend the renal defect underlying the idiopathic Fanconi syndrome in the basenji dog, we have used isolated renal brush border membrane vesicles to examine two factors that influence membrane nonelectrolyte transport processes, sodium flux an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ead869ae038afff9375a4485e3ccd64
https://pubmed.ncbi.nlm.nih.gov/1542263

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