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Lista de obras de Procházková D

A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report.

artículo científico publicado en 2016

Controlled diet in phenylketonuria and hyperphenylalaninemia may cause serum selenium deficiency in adult patients: the Czech experience.

artículo científico publicado en 2013

Copper and zinc in the serum, urine, and hair of patients with Wilson's disease treated with penicillamine and zinc.

artículo científico publicado en 2009

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

artículo científico publicado en 2014

Haemolytic anaemia and acute liver failure--the initial manifestations of Wilson's disease

scientific article published on 01 January 2008

Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement.

artículo científico publicado en 2006

Retinoblastoma in monozygotic twins

artículo científico publicado en 2003

Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families

artículo científico publicado en 2000

Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase

scientific article published on 15 June 2019

Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders

scientific article published on 04 October 2011

Wilson's disease: monocentric experiences over a period of 10 years [corrected].

artículo científico publicado en 2009

[Acquired copper deficiency]

artículo científico publicado en 1991

[Molecular analysis of Wilson disease]

artículo científico publicado en 2002

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