Lista de obras -

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

artículo científico publicado en 2010

Aminoacylase 1 deficiency associated with autistic behavior

artículo científico publicado en 2010

Biochemical and clinical characteristics of creatine deficiency syndromes.

artículo científico publicado en 2004

Characterisation of the 1H and 13C NMR spectra of N-acetylaspartylglutamate and its detection in urine from patients with Canavan disease

artículo científico publicado en 2003

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency

artículo científico publicado en 2008

Determination of the absolute configuration of 2-hydroxyglutaric acid and 5-oxoproline in urine samples by high-resolution NMR spectroscopy in the presence of chiral lanthanide complexes

artículo científico publicado en 2002

Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient.

artículo científico publicado en 2008

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

scientific article published on 01 November 2015

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

artículo científico publicado en 2015

Evaluation of somatic development in adult patients with previously undiagnosed and/or untreated phenylketonuria.

artículo científico publicado en 2009

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria

artículo científico publicado en 2010

Identification of 2-[2-nitro-4-(trifluoromethyl)benzoyl]- cyclohexane-1,3-dione metabolites in urine of patients suffering from tyrosinemia type I with the use of 1H and 19F NMR spectroscopy

artículo científico publicado en 2008

Investigation of a wide spectrum of inherited metabolic disorders by 13C NMR spectroscopy

artículo científico publicado en 2008

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

artículo científico publicado en 2015

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

artículo científico publicado en 2015

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

artículo científico publicado en 2010

Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient

artículo científico publicado en 2010

Lista de obras de

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

Aminoacylase 1 deficiency associated with autistic behavior

Biochemical and clinical characteristics of creatine deficiency syndromes.

Characterisation of the 1H and 13C NMR spectra of N-acetylaspartylglutamate and its detection in urine from patients with Canavan disease

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency

Determination of the absolute configuration of 2-hydroxyglutaric acid and 5-oxoproline in urine samples by high-resolution NMR spectroscopy in the presence of chiral lanthanide complexes

Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Evaluation of somatic development in adult patients with previously undiagnosed and/or untreated phenylketonuria.

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria

Identification of 2-[2-nitro-4-(trifluoromethyl)benzoyl]- cyclohexane-1,3-dione metabolites in urine of patients suffering from tyrosinemia type I with the use of 1H and 19F NMR spectroscopy

Investigation of a wide spectrum of inherited metabolic disorders by 13C NMR spectroscopy

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient