Výsledky vyhľadávania
- 9. ázijsko-európsky kongres o dedičných metabolických poruchách (AEWIEM) v roku 2004 na Slovensku / Vladimír Bzdúch . Medicínsky monitor. - ISSN 1335-0951 . - Č. 4 (2004), s. 24
- C 2879
článok
- 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
článok
- 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
článok
- 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
článok
- 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
článok
- Aký bol 9. AEWIEM vo Vysokých Tatrách? / Vladimír Bzdúch . Medicínsky monitor. - ISSN 1335-0951 . - Č. 6 (2004), s. 45 : Obr.
- C 2879
článok
- 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
článok
- 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
článok
- 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
článok
- 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
článok