| Názov | Bratislavské lekárske listy = Bratislava medical journal : international journal for biomedical sciences and clinical medicine
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| Roč., číslo | Vol. 105, no. 9, rok 2004
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| ISSN | 0006-9248
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| Fyz.popis | s. 291-341
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| Súborný záznam | Bratislavské lekárske listy
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| Bratislavské lekárske listy
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| Jazyk dok. | ---
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| Počet ex. | 5, z toho voľných 0, prezenčne 1
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| Báza dát | PERIODIKÁ - Prijaté čísla
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| Obsah | The experience of diagnosis of mitochondriopathies in Ukraine / / E.Y. Grechanina ... [et al.]
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| Population analysis in east Asia of twelve SLC25A13 mutations found in Japanese patients with citrin deficiency (CTLN2 and NICCD) / / Keiko Kobayashi ... [et al.]
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| Molecular and biochemical basis for variants and deficiency of GALT: report of 4 novel mutations / / Y.S. Shin, T. Podskarbi
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| Diagnosis and management of galactosemia: An Egyptian experience / / Ekram Fateen ... [et al.]
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| Accumulation of cytosolic NADH as the prime cause of various symptoms in deficiency of citrin, a liver-type mitochondrial aspartate.. / Takeyori Saheki ... [et al.]
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| Clinical outcome of PKU patients - correlation to the type of HPA, metabolic compensation and age / / J. Šaligová ... [et al.]
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| A case of Rett syndrome from Ukraine - Clinical diagnosis confirmed by mutation analysis of the MECP2 gene / / V. Bzdúch ... [et al.]
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| Diagnosis and management of galactosemia: An Egyptian experience / / E. Fateen ... [et al.]
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| Quantitative analysis and reference value determination of galactose-1-phosphate uridyltransferase activity in healthy babies / / Gunes Ak Basol ... [et al.]
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| Universal screening of cholesterolaemia in Slovakia - current state / / P. Šimurka ... [et al.]
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| The heart and Fabry disease: Current knowledge / / A. Linhart ... [et al.]
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| Biochemical diagnosis of Niemann-Pick disease A, B and C: The important role of sphingomyelinase / / M. Dietze, Y.S. Shin
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| Inborn errors of metabolism in Latvia / / R. Lugovska ... [et al.]
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| Tetrahydrobiopterine (BH4) responsive phenylketonuria / / Dong-Hwan Lee, Kim YS
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| Prenatal diagnosis of mucopolysaccharidoses (MPS): The first Egyptian experience / / A. Aboul Nasr, E. Fateen
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| Ketogenic diet / / V. Klčová ... [et al.]
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| A case of Rett syndrome from Ukraine - clinical diagnosis confirmed by mutation analysis of the MECP2 gene / / V. Bzdúch ... [et al.]
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| Acid sphingomyelinase deficiency: molecular studies of a series of 25 Czech and Slovak patients with prevalence of intermediate phenotype / / M. Elleder ... [et al.]
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| Urea cycle disorders - pitfalls in diagnosis / / D. Behúlová ... [et al.]
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| Unexplained familial methylmalonic aciduria: a benign situation or an unidentified inborn error? / / M. Gunduz ... [et al.]
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| Prenatal diagnosis of mucopolysaccharidoses (MPS): The first Egyptian experience / / Ahmed Aboul Nasr, Ekram Fateen
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| Genotype and phenotype correlation of Pompe disease / / T. Podskarbi, Y.S. Shin
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| Mitochondrial fatty acid oxidation deficiencies: an overview / / W. Lehnert, D. Matern
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| Free L-carnitine in diagnosis and monitoring of inherited metabolic diseases / / A. Šalingová ... [et al.]
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| Percutaneous endoscopic gastrostomy in patients with inborn errors of metabolism / / K. Fabriciová ... [et al.]
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| Clinical, biochemical and molecular heterogeneity of branching enzyme deficiency (Andersen disease) / / Hyunkyung Lee, Teodor Podskarbi,..
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| Identification of the PCCA and PCCB gene mutations in Chinese propionic acidemia patients / / Mei-Ying Liu ... [et al.]
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| Glutamine and glutamate in the differential diagnosis of hyperammonemias, organic acidurias, the hyperinsulinism/hyperammonemia (HIHA).. / J.G.M. Huijmans ... [et al.]
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| Nonketotic hyperglycinaemia in Slovakia / / Z. Vajnerová ... [et al.]
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| Genotyping patients with fatty acid oxidation defects: Why, when and how / / N. Gregersen, B.S. Andresen
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