Literature DB >> 5229850

Isovaleric acidemia: a new genetic defect of leucine metabolism.

K Tanaka, M A Budd, M L Efron, K J Isselbacher.   

Abstract

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Year:  1966        PMID： 5229850      PMCID： PMC285701          DOI： 10.1073/pnas.56.1.236

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


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  15 in total

1.  INDUCTION OF SWELLING OF LIVER MITOCHONDRIA BY FATTY ACIDS OF VARIOUS CHAIN LENGTH.

Authors:  J ZBOROWSKI; L WOJTCZAK
Journal:  Biochim Biophys Acta       Date:  1963-10-22

2.  Metabolism of beta-methyl-C5 fatty acids by mitochondria of rat liver: effect of biotin nutriture.

Authors:  J E FISCHER
Journal:  Proc Soc Exp Biol Med       Date:  1955-02

3.  Two-way separation of amino acids and other ninhydrin-reacting substances by high-voltage electrophoresis followed by paper chromatography.

Authors:  M L EFRON
Journal:  Biochem J       Date:  1959-08       Impact factor: 3.857

4.  Studies on the fibrinogen, dextran and phytohemagglutinin methods of isolating leukocytes.

Authors:  W A SKOOG; W S BECK
Journal:  Blood       Date:  1956-05       Impact factor: 22.113

5.  Enzymatic carboxylation of beta-hydroxyisovaleryl coenzyme A.

Authors:  B K BACHHAWAT; W G ROBINSON; M J COON
Journal:  J Biol Chem       Date:  1956-04       Impact factor: 5.157

6.  Stimulation of the glucose oxidative pathway in human erythrocytes by methylene blue.

Authors:  M BRIN; R H YONEMOTO
Journal:  J Biol Chem       Date:  1958-01       Impact factor: 5.157

7.  Effects of fatty acid anions on the electroencephalogram of unanesthetized rabbits.

Authors:  F E SAMSON; R P WHITE
Journal:  Am J Physiol       Date:  1956-08

8.  A study on the narcotic action of the short chain fatty acids.

Authors:  D R DAHL; N DAHL; F E SAMSON
Journal:  J Clin Invest       Date:  1956-11       Impact factor: 14.808

9.  Studies on fatty acid oxidation. 8. The effects of fatty acids on metabolism of rat-brain cortex in vitro.

Authors:  K AHMED; P G SCHOLEFIELD
Journal:  Biochem J       Date:  1961-10       Impact factor: 3.857

10.  Oxidative phosphorylation accompanying oxidation of short-chain fatty acids by rat-liver mitochondria.

Authors:  F J Hird; M J Weidemann
Journal:  Biochem J       Date:  1966-02       Impact factor: 3.857
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  64 in total

Review 1.  Newborn screening: After the thrill is gone.

Authors:  Jerry Vockley
Journal:  Mol Genet Metab       Date:  2007-07-02       Impact factor: 4.797

2.  Chronic intermittent form of isovaleric aciduria in a 2-year-old boy.

Authors:  Jin Min Cho; Beom Hee Lee; Gu-Hwan Kim; Yoo-Mi Kim; Jin-Ho Choi; Han-Wook Yoo
Journal:  Korean J Pediatr       Date:  2013-08-27

Review 3.  Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management.

Authors:  Prem S Shekhawat; Dietrich Matern; Arnold W Strauss
Journal:  Pediatr Res       Date:  2005-04-06       Impact factor: 3.756

4.  Ebstein cardiac anomaly, functional pulmonary atresia and isovaleric acidemia: A case report.

Authors:  Ammar M H Qadi; Hussam K Hamadah; Abdulraouf M Z Jijeh; Omar M Hijazi; Mohamad S Kabbani
Journal:  J Saudi Heart Assoc       Date:  2014-01-21

5.  Metabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects.

Authors:  K Tanaka; R Mandell; V E Shih
Journal:  J Clin Invest       Date:  1976-07       Impact factor: 14.808

6.  Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts.

Authors:  Y Matsubara; M Ito; R Glassberg; S Satyabhama; Y Ikeda; K Tanaka
Journal:  J Clin Invest       Date:  1990-04       Impact factor: 14.808

7.  Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia.

Authors:  Yong-Wha Lee; Dong Hwan Lee; Jerry Vockley; Nam-Doo Kim; You Kyoung Lee; Chang-Seok Ki
Journal:  Mol Genet Metab       Date:  2007-06-18       Impact factor: 4.797

8.  Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update.

Authors:  J M Saudubray; H Ogier; C Charpentier; E Depondt; F X Coudé; A Munnich; G Mitchell; F Rey; J Rey; J Frézal
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

9.  A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria.

Authors:  W Lehnert; H Niederhoff; A Junker; H Saule; W Frasch
Journal:  Eur J Pediatr       Date:  1979-10       Impact factor: 3.183

10.  Ethylene glycol monomethyl ether-induced toxicity is mediated through the inhibition of flavoprotein dehydrogenase enzyme family.

Authors:  Makoto Takei; Yosuke Ando; Wataru Saitoh; Tomoe Tanimoto; Naoki Kiyosawa; Sunao Manabe; Atsushi Sanbuissho; Osamu Okazaki; Haruo Iwabuchi; Takashi Yamoto; Klaus-Peter Adam; James E Weiel; John A Ryals; Michael V Milburn; Lining Guo
Journal:  Toxicol Sci       Date:  2010-07-08       Impact factor: 4.849
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