Malonová E - Search Results

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[Congenital disorder of type Ia protein glycosylation: clinical, biochemical and molecular characteristics in 2 siblings with cerebellar hypoplasia].

Honzík T, Malonová E, Hansíková H, Rosipal R, Poupĕtová H, Martásek P, Zeman J. Honzík T, et al. Among authors: malonova e. Cas Lek Cesk. 2003;142(5):276-9. Cas Lek Cesk. 2003. PMID: 12920791 Czech.

Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT).

Lamoril J, Andant C, Gouya L, Malonova E, Grandchamp B, Martásek P, Deybac JC, Puy H. Lamoril J, et al. Among authors: malonova e. Cell Mol Biol (Noisy-le-grand). 2002 Feb;48(1):33-41. Cell Mol Biol (Noisy-le-grand). 2002. PMID: 11929045

Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.

Schmitt C, Gouya L, Malonova E, Lamoril J, Camadro JM, Flamme M, Rose C, Lyoumi S, Da Silva V, Boileau C, Grandchamp B, Beaumont C, Deybach JC, Puy H. Schmitt C, et al. Among authors: malonova e. Hum Mol Genet. 2005 Oct 15;14(20):3089-98. doi: 10.1093/hmg/ddi342. Epub 2005 Sep 13. Hum Mol Genet. 2005. PMID: 16159891

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