Literature DB >> 1434522

Multiple enzyme defects in mitochondria of a case with congenital lactic acidosis and hyperammonaemia.

M Kobayashi1, T Ichiki, N Sugiyama, T Sano, K Ban, T Tsuboi, H Inagaki, K Okajima, H Sobajima, S Suzuki.   

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Year:  1992        PMID： 1434522     DOI： 10.1007/bf01800026

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  12 in total

1.  Mitochondrial leucine tRNA mutation in a mitochondrial encephalomyopathy.

Authors:  H Ino; M Tanaka; K Ohno; K Hattori; S Ikebe; T Sano; T Ozawa; T Ichiki; M Kobayashi; Y Wada
Journal:  Lancet       Date:  1991-01-26       Impact factor: 79.321

2.  Fatal neonatal hepatocellular deficiency with lactic acidosis: a defect of the respiratory chain.

Authors:  F Parrot-Roulaud; M Carre; T Lamirau; T Letellier; M Malgat; J P Mazat; A Munnich; J L Demarquez
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

3.  Abnormality of citrulline synthesis in liver mitochondria from patients with hyperornithinaemia, hyperammonaemia and homocitrullinuria.

Authors:  I Inoue; M Koura; T Saheki; K Kayanuma; M Uono; M Nakajima; K Takeshita; R Koike; T Yuasa; T Miyatake
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

4.  Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency.

Authors:  G K Brown; R D Scholem; S M Hunt; J R Harrison; A C Pollard
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

5.  Different ketogenic response to medium-chain triglycerides and to long-chain triglycerides in a case of muscular carnitine palmitoyltransferase deficiency.

Authors:  N Sugiyama; Y Wada; H Morishita; I Nonaka
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

6.  Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain.

Authors:  M A Birch-Machin; I M Shepherd; N J Watmough; H S Sherratt; K Bartlett; V M Darley-Usmar; D W Milligan; R J Welch; A Aynsley-Green; D M Turnbull
Journal:  Pediatr Res       Date:  1989-05       Impact factor: 3.756

7.  Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings.

Authors:  J M Saudubray; C Marsac; C L Cathelineau; M Besson Leaud; J P Leroux
Journal:  Acta Paediatr Scand       Date:  1976-11

8.  Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis.

Authors:  R W Moreadith; M L Batshaw; T Ohnishi; D Kerr; B Knox; D Jackson; R Hruban; J Olson; B Reynafarje; A L Lehninger
Journal:  J Clin Invest       Date:  1984-09       Impact factor: 14.808

9.  Deficiency of subunits of Complex I and mitochondrial encephalomyopathy.

Authors:  T Ichiki; M Tanaka; M Nishikimi; H Suzuki; T Ozawa; M Kobayashi; Y Wada
Journal:  Ann Neurol       Date:  1988-03       Impact factor: 10.422

10.  Detection of pyruvate metabolism disorders by culture of skin fibroblasts with dichloroacetate.

Authors:  E Naito; Y Kuroda; E Takeda; I Yokota; H Kobashi; M Miyao
Journal:  Pediatr Res       Date:  1988-06       Impact factor: 3.756
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