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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")
- 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
- C 526
- 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
- 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
- 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
- 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.
- C 526
- 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
- 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
- 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
- C 526
- 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
- 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