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Records found: 25  
Your query: Sysno = ("r028998" OR "r029015" OR "r029131" OR "r029168" OR "r029028" OR "r029134" OR "r029090" OR "r029052" OR "r029001" OR "r029034" OR "r029135" OR "r029120" OR "r029163" OR "r029037" OR "r029062" OR "r029097" OR "r029116" OR "r029085" OR "r029084" OR "r029114" OR "r029091" OR "r029093" OR "r029009" OR "r029150" OR "r029031")

  1. 1.A case of Rett syndrome from Ukraine - Clinical diagnosis confirmed by mutation analysis of the MECP2 gene

    A case of Rett syndrome from Ukraine - Clinical diagnosis confirmed by mutation analysis of the MECP2 gene  / V. Bzdúch ... [et al.] .  Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. - ISSN 0006-9248 . - Vol. 105, no. 9 (2004), s. 320  
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  2. 2.A case of Rett syndrome from Ukraine - clinical diagnosis confirmed by mutation analysis of the MECP2 gene

    A case of Rett syndrome from Ukraine - clinical diagnosis confirmed by mutation analysis of the MECP2 gene  / V. Bzdúch ... [et al.] .  Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. - ISSN 0006-9248 . - Vol. 105, no. 9 (2004), s. 299-302  : Obr., sch., tab.  
    C 526
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  3. 3.Accumulation of cytosolic NADH as the prime cause of various symptoms in deficiency of citrin, a liver-type mitochondrial aspartate glutamate carier

    Accumulation of cytosolic NADH as the prime cause of various symptoms in deficiency of citrin, a liver-type mitochondrial aspartate glutamate carier  / Takeyori Saheki ... [et al.] .  Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. - ISSN 0006-9248 . - Vol. 105, no. 9 (2004), s. 333-334  
    C 526
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  4. 4.Acid sphingomyelinase deficiency: molecular studies of a series of 25 Czech and Slovak patients with prevalence of intermediate phenotype

    Acid sphingomyelinase deficiency: molecular studies of a series of 25 Czech and Slovak patients with prevalence of intermediate phenotype  / M. Elleder ... [et al.] .  Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. - ISSN 0006-9248 . - Vol. 105, no. 9 (2004), s. 339-340  
    C 526
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  5. 5.Biochemical diagnosis of Niemann-Pick disease A, B and C: The important role of sphingomyelinase

    Biochemical diagnosis of Niemann-Pick disease A, B and C: The important role of sphingomyelinase  / M. Dietze, Y.S. Shin .  Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. - ISSN 0006-9248 . - Vol. 105, no. 9 (2004), s. 321  : Tab.  
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  6. 6.Clinical outcome of PKU patients - correlation to the type of HPA, metabolic compensation and age

    Clinical outcome of PKU patients - correlation to the type of HPA, metabolic compensation and age  / J. Šaligová ... [et al.] .  Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. - ISSN 0006-9248 . - Vol. 105, no. 9 (2004), s. 334  
    C 526
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  7. 7.Clinical, biochemical and molecular heterogeneity of branching enzyme deficiency (Andersen disease)

    Clinical, biochemical and molecular heterogeneity of branching enzyme deficiency (Andersen disease)  / Hyunkyung Lee, Teodor Podskarbi, Yoon S. Shin .  Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. - ISSN 0006-9248 . - Vol. 105, no. 9 (2004), s. 329  
    C 526
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  8. 8.Developments of neonatal screening in Taiwan

    Developments of neonatal screening in Taiwan  / Kwang-Jen Hsiao, Szu-Hui Chiang, Tze-Tze Liu .  Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. - ISSN 0006-9248 . - Vol. 105, no. 9 (2004), s. 325-326  
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  9. 9.Diagnosis and management of galactosemia: An Egyptian experience

    Diagnosis and management of galactosemia: An Egyptian experience  / E. Fateen ... [et al.] .  Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. - ISSN 0006-9248 . - Vol. 105, no. 9 (2004), s. 303-309  : Grafy  
    C 526
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  10. 10.Four enyzymes involved in mucopolysaccharidosis III (Sanfilippo syndrome): Expression in various tissue and the diagnostic possibility using leucocytes

    Four enyzymes involved in mucopolysaccharidosis III (Sanfilippo syndrome): Expression in various tissue and the diagnostic possibility using leucocytes  / L. Fischer, Y.S. Shin .  Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. - ISSN 0006-9248 . - Vol. 105, no. 9 (2004), s. 323  
    C 526
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