1 to 10 of 27 literature results

• Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

  Myelination is a complex, developmentally regulated process whereby myelin proteins and lipids are coordinately expressed by myelinating glial cells. …

  Authors: Simon Edvardson, Hiroko Hama, Avraham Shaag, John Moshe Gomori, Itai Berger, Dov Soffer, Stanley H Korman, Ilana Taustein, Ann Saada, Orly Elpeleg

  Source: American journal of human genetics. 2008 Nov

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• 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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• Inborn errors of isoleucine degradation: a review.

  Three inborn errors have been identified in the pathway of isoleucine degradation. Deficiency of beta-ketothiolase (beta-KT, also known as T2, mitocho…

  Authors: Stanley H Korman

  Source: Molecular genetics and metabolism. 2006 Dec

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• Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.

  3-Hydroxy-3-methylglutaric aciduria is a rare autosomal recessive genetic disorder that affects ketogenesis and L-leucine catabolism. The clinical acu…

  Authors: Sebastián Menao, Eduardo López-Viñas, Cecilia Mir, Beatriz Puisac, Esther Gratacós, María Arnedo, Patricia Carrasco, Susana Moreno, Mónica Ramos, María Concepción Gil,…

  Source: Human mutation. 2009 Mar

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• Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.

  D-2-hydroxyglutaric aciduria is a neurometabolic disorder with mild and severe phenotypes. Recently, we reported pathogenic mutations in the D-2-hydro…

  Authors: Eduard A Struys, Stanley H Korman, Gajja S Salomons, Patricia S Darmin, Younes Achouri, Emile van Schaftingen, Nanda M Verhoeven, Cornelis Jakobs

  Source: Annals of neurology. 2005 Oct

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• Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test.

  OBJECTIVE: It is currently problematic to confirm the clinical diagnosis of glycine encephalopathy, requiring either invasive liver biopsy for enzymat…

  Authors: Shigeo Kure, Stanley H Korman, Junko Kanno, Ayumi Narisawa, Mitsuru Kubota, Toshimitsu Takayanagi, Masaki Takayanagi, Takashi Saito, Akira Matsui, Fumiaki Kamada,…

  Source: Annals of neurology. 2006 May

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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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• 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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• 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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