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Academic Journal

[Hereditary disorders of mitochondrial ATP synthase].

Subjects: Mutation*; Adenosine Triphosphatases/Adenosine Triphosphatases/Adenosine Triphosphatases/*genetics ; Mitochondrial Diseases/Mitochondrial Diseases/Mitochondrial Diseases/*genetics

  • Source: Casopis lekaru ceskych [Cas Lek Cesk] 2004; Vol. 143 (8), pp. 517-20.Publisher: Ceskoslovenska Lekarska Spolecnost Country of Publication: Czech Republic NLM ID: 0004743 Publication Model: Print

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Academic Journal

[A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome].

  • Authors : Capková M; Klinika dĕtského a dorostového lékarství a Centrum integrované genomiky 1. LF UK a VFN, Praha.; Hansíková H

Subjects: Mutation, Missense*; Leigh Disease/Leigh Disease/Leigh Disease/*genetics ; Proteins/Proteins/Proteins/*genetics

  • Source: Casopis lekaru ceskych [Cas Lek Cesk] 2002 Oct 11; Vol. 141 (20), pp. 636-41.Publisher: Ceskoslovenska Lekarska Spolecnost Country of Publication: Czech Republic NLM ID: 0004743 Publication Model: Print

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Academic Journal

[Variation in manifestations of heteroplasmic mtDNA mutation 8993 T>G in two families].

  • Authors : Tesarová M; Klinika dĕtského a dorostového lékarství a Centrum integrované genomiky 1. LF UK a VFN, Praha.; Hansíková H

Subjects: Point Mutation*; Ataxia/Ataxia/Ataxia/*genetics ; DNA, Mitochondrial/DNA, Mitochondrial/DNA, Mitochondrial/*genetics

  • Source: Casopis lekaru ceskych [Cas Lek Cesk] 2002 Aug 30; Vol. 141 (17), pp. 551-4.Publisher: Ceskoslovenska Lekarska Spolecnost Country of Publication: Czech Republic NLM ID: 0004743 Publication Model: Print

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Academic Journal

[Oxygraphic evaluation of energy metabolism in isolated hepatocytes].

  • Authors : Cervinková Z; Univerzita Karlova v Praze, Lékarská fakulta v Hradci Králové, Ustav fyziologie. ; Kucera O

Subjects: Energy Metabolism*/Energy Metabolism*/Energy Metabolism*/drug effects; Hepatocytes/Hepatocytes/Hepatocytes/*metabolism; Animals

  • Source: Acta medica (Hradec Kralove). Supplementum [Acta Medica (Hradec Kralove) Suppl] 2002; Vol. 45 (2), pp. 65-76.Publisher: Universitas Carolina, Facultas Medica Hradec Králove Country of Publication: Czech Republic NLM ID: 9815916 Publication

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Academic Journal

[Prenatal diagnosis in families with cytochrome C oxidase disorder].

Subjects: Cytochrome-c Oxidase Deficiency* ; Prenatal Diagnosis*; Electron Transport Complex IV/Electron Transport Complex IV/Electron Transport Complex IV/genetics

  • Source: Ceska gynekologie [Ceska Gynekol] 2000 Jan; Vol. 65 (1), pp. 37-42.Publisher: Ceská lékarska spolecnost J. E. Purkyne Country of Publication: Czech Republic NLM ID:

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Academic Journal

[Leber's hereditary optic neuropathy].

  • Authors : Konrádová V; Klinika dĕtského a dorostového lékarství 1. LF UK a VFN, Praha.; Zeman J

Subjects: Optic Atrophies, Hereditary/Optic Atrophies, Hereditary/Optic Atrophies, Hereditary/*genetics; DNA, Mitochondrial/DNA, Mitochondrial/DNA, Mitochondrial/genetics ; Female

  • Source: Casopis lekaru ceskych [Cas Lek Cesk] 1999 Oct 20; Vol. 138 (18), pp. 565-8.Publisher: Ceskoslovenska Lekarska Spolecnost Country of Publication: Czech Republic NLM ID: 0004743 Publication Model: Print

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Academic Journal

[Various manifestations of the A8344G mtDNA heteroplasmic mutation in 4 families with the MERRF syndrome].

  • Authors : Stratilová L; Klinika dĕtského a dorostového lékarství 1. LF UK a VFN, Praha.; Zeman J

Subjects: Point Mutation*; DNA, Mitochondrial/DNA, Mitochondrial/DNA, Mitochondrial/*genetics ; MERRF Syndrome/MERRF Syndrome/MERRF Syndrome/*genetics

  • Source: Casopis lekaru ceskych [Cas Lek Cesk] 1999 Jun 28; Vol. 138 (13), pp. 401-5.Publisher: Ceskoslovenska Lekarska Spolecnost Country of Publication: Czech Republic NLM ID: 0004743 Publication Model: Print

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Academic Journal

[Mitochondrial myopathy, deafness and type 2 diabetes mellitus with tRNALeu(UUR) point mutation in mitochondrial DNA].

  • Authors : Stratilová L; Klinika dĕtského a dorostového lékarství 1. LF UK a VFN, Praha.; Zeman J

Subjects: Point Mutation*; DNA, Mitochondrial/DNA, Mitochondrial/DNA, Mitochondrial/*genetics ; Deafness/Deafness/Deafness/*genetics

  • Source: Casopis lekaru ceskych [Cas Lek Cesk] 1998 Jul 13; Vol. 137 (14), pp. 430-3.Publisher: Ceskoslovenska Lekarska Spolecnost Country of Publication: Czech Republic NLM ID: 0004743 Publication Model: Print

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Academic Journal

[Metabolic study in a child with Leigh's syndrome and deficient activity in complex I of the respiratory chain].

Subjects: Leigh Disease/Leigh Disease/Leigh Disease/*metabolism ; Multienzyme Complexes/Multienzyme Complexes/Multienzyme Complexes/*metabolism ; NADH Dehydrogenase/NADH Dehydrogenase/NADH Dehydrogenase/*metabolism

  • Source: Ceskoslovenska pediatrie [Cesk Pediatr] 1993 Oct; Vol. 48 (10), pp. 586-9.Publisher: Prace Publishing Country of Publication: Czech Republic NLM ID: 0403576 Publication Model: Print Cited Medium:

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Academic Journal

[The discovery of Pneumocystis pneumonia and Czechoslovak pediatrics].

  • Authors : Houstĕk J; II. dĕtská klinika FN v Motole, Praha.

Subjects: Pediatrics/Pediatrics/Pediatrics/*history ; Pneumonia, Pneumocystis/Pneumonia, Pneumocystis/Pneumonia, Pneumocystis/*history; Child

  • Source: Ceskoslovenska pediatrie [Cesk Pediatr] 1993 Apr; Vol. 48 (4), pp. 219-21.Publisher: Prace Publishing Country of Publication: Czech Republic NLM ID: 0403576 Publication Model: Print Cited Medium:

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