1 to 10 of 14 literature results

• Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation.

  OBJECTIVE: To determine whether the devastating outcome of neonatal-onset glycine encephalopathy (NKH) could be improved by instituting treatment imme…

  Authors: Stanley H Korman, Isaiah D Wexler, Alisa Gutman, Marie-Odile Rolland, Junko Kanno, Shigeo Kure

  Source: Annals of neurology. 2006 Feb

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• Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation.

  Three of four nonketotic hyperglycinemia patients homozygous for a novel GLDC mutation (A802V) were treated by assisted respiration and/or sodium benz…

  Authors: Stanley H Korman, Avihu Boneh, Akiko Ichinohe, Kanako Kojima, Kenichi Sato, Zivanit Ergaz, John M Gomori, Alisa Gutman, Shigeo Kure

  Source: Annals of neurology. 2004 Jul

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• 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation.

  BACKGROUND: Isolated excretion of 2-methylbutyrylglycine (2-MBG) is the hallmark of short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD), a…

  Authors: Stanley H Korman, Brage S Andresen, Avraham Zeharia, Alisa Gutman, Avihu Boneh, James J Pitt

  Source: Clinical chemistry. 2005 Mar

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• A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.

  Mutations in 12 different PEX genes can cause a generalized peroxisomal biogenesis disorder with clinical phenotypes ranging from Zellweger syndrome t…

  Authors: Avraham Zeharia, Merel S Ebberink, Ronald J A Wanders, Hans R Waterham, Alisa Gutman, Andreea Nissenkorn, Stanley H Korman

  Source: Journal of human genetics. 2007

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• A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.

  Sensorineural deafness and retinitis pigmentosa (RP) are the hallmarks of Usher syndrome (USH) but are also prominent features in peroxisomal biogenes…

  Authors: Annick Raas-Rothschild, Ronald J A Wanders, Petra A W Mooijer, Jeannette Gootjes, Hans R Waterham, Alisa Gutman, Yasuyuki Suzuki, Nobuyuki Shimozawa, Naomi Kondo, Gideon Eshel,…

  Source: American journal of human genetics. 2002 Apr

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• A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.

  Carnitine-acylcarnitine translocase (CACT) deficiency is a rare disorder of fatty acid oxidation associated with high mortality. Two female newborns o…

  Authors: Stanley H Korman, James J Pitt, Avihu Boneh, Imad Dweikat, Mokhtar Zater, Vardiella Meiner, Alisa Gutman, Michèle Brivet

  Source: Molecular genetics and metabolism. 2006 Dec

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• Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency.

  Detection of hepatic carnitine palmitoyltransferase I (CPT IA) deficiency by metabolite screening may be problematic. The urine organic acid profile i…

  Authors: Stanley H Korman, Hans R Waterham, Alisa Gutman, Cornelis Jakobs, Ronald J A Wanders

  Source: Molecular genetics and metabolism. 2005 Nov

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• Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.

  Hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome is caused by mutations in the SLC25A15 (ORNT1) gene encoding the mitochondrial…

  Authors: Stanley H Korman, Naomi Kanazawa, Bassam Abu-Libdeh, Alisa Gutman, Seiichi Tsujino

  Source: Journal of the neurological sciences. 2004 Mar 15

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• Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status.

  Virtually all patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD) are homozygous or compound heterozygous for the 985A > G mutation, …

  Authors: Stanley H Korman, Alisa Gutman, Rivka Brooks, Thayline Sinnathamby, Niels Gregersen, Brage S Andresen

  Source: Molecular genetics and metabolism. 2004 Jun

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• Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis.

  Hyperargininemia is a progressive neurometabolic disorder caused by deficiency of hepatic cytosolic arginase I, resulting from mutations in the ARG1 g…

  Authors: Stanley H Korman, Alisa Gutman, Edia Stemmer, Barrie S Kay, Ziva Ben-Neriah, Marsha Zeigler

  Source: Prenatal diagnosis. 2004 Nov

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