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Lista de obras de Jiri Zeman

"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity

artículo científico publicado en 1987

1H MR spectroscopy as a diagnostic tool for cerebral creatine deficiency

artículo científico publicado en 2008

A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and Hypertrichosis

artículo científico publicado en 2001

A case of Rett syndrome from Ukraine--clinical diagnosis confirmed by mutation analysis of the MECP2 gene

article

A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency

artículo científico publicado en 1996

A new case of ALG8 deficiency (CDG Ih).

artículo científico publicado en 2009

A new mutation within the porphobilinogen deaminase gene leading to a truncated protein as a cause of acute intermittent porphyria in an extended Indian family.

artículo científico publicado en 2007

A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: Further evidence for possible bias in retroposon integration

article

Abnormalities in succinylpurines in fumarase deficiency: possible role in pathogenesis of CNS impairment

artículo científico publicado en 2000

Accumulation and impaired in vivo metabolism of di- and trihydroxycholestanoic acid in two patients

artículo científico publicado en 1991

Accumulation of homoplasmic mtDNA point mutations in erythroblasts isolated from the bone marrow of patients with refractory anemia with ring sideroblasts (RARS)

scientific article published on 01 August 2004

Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study

artículo científico publicado en 2005

Activities of cytochrome c oxidase and citrate synthase in lymphocytes of obese and normal-weight subjects

article published in 2002

Activities of respiratory chain complexes and pyruvate dehydrogenase in isolated muscle mitochondria in premature neonates.

artículo científico publicado en 2007

Activities of respiratory chain complexes in isolated platelets in females with anorexia nervosa.

artículo científico publicado en 2007

Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency

artículo científico publicado en 2017

Acute hyperammonaemic encephalopathy in a female newborn caused by a novel, de novo mutation in the ornithine transcarbamylase gene

artículo científico publicado en 2004

Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients

artículo científico publicado en 1997

Adenylosuccinate lyase deficiency in a Czech girl and two siblings

article

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

artículo científico publicado en 2016

Altered properties of mitochondrial ATP-synthase in patients with a T-->G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA

article

An Atypical Ultrastructural Pattern in Fabry's Disease: A Study on Its Nature and Incidence in 7 Cases

artículo científico publicado en 1990

Analysis of Mitochondrial Network Morphology in Cultured Myoblasts from Patients with Mitochondrial Disorders

artículo científico publicado en 2015

Analysis of expression profiles of genes involved in F(o)F(1)-ATP synthase biogenesis during perinatal development in rat liver and skeletal muscle.

artículo científico publicado en 2016

Assembly factors and ATP-dependent proteases in cytochrome c oxidase biogenesis

artículo científico publicado en 2010

Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders

artículo científico publicado en 2015

Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria

artículo científico publicado en 2003

Biogenesis of eukaryotic cytochrome c oxidase

scientific journal article

Bone mineral density in patients with phenylketonuria

artículo científico publicado en 1999

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

artículo científico publicado en 2012

Carnitine concentrations in term and preterm newborns at birth and during the first days of life

artículo científico publicado en 2005

Clinical Heterogeneity, Tissue Distribution, and Intergenerational Segregation of mtDNA Mutation A3243G.

artículo científico publicado en 2004

Clinical manifestation of mitochondrial diseases

artículo científico publicado en 2015

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

artículo científico publicado en 2015

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.

artículo científico publicado en 2012

Clinical picture of homocystinuria with cystathionine beta-synthase deficiency in 19 Czech and Slovak patients

artículo científico publicado en 2000

Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency--what have we learned?

artículo científico publicado en 2010

Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene.

artículo científico publicado en 2004

Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I

artículo científico publicado en 2010

Combined Adenine Phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate Sulfatase Deficiency

article

Complex approach to prenatal diagnosis of cytochrome c oxidase deficiencies

artículo científico publicado en 1999

Congenital aplastic anemia caused by parvovirus B19 infection

artículo científico publicado en 2001

Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes

artículo científico publicado en 2007

Cystathioninuria

artículo científico publicado en 1985

Cytosine-Adenosine (CA)n repeats polymorphism in IGF-I gene and early growth in infants born appropriate and small for gestational age.

artículo científico publicado en 2009

Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations

artículo científico publicado en 2004

Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position 8344 nt.

artículo científico publicado en 1999

Deficiency of mitochondrial ATP synthase of nuclear genetic origin

artículo científico publicado en 2006

Deficiency of pyruvate dehydrogenase complex in tissues of an eight month old infant

artículo científico publicado en 1993

Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction

artículo científico publicado en 2020

Deterioration of mitochondrial bioenergetics and ultrastructure impairment in skeletal muscle of a transgenic minipig model in the early stages of Huntington's disease

scientific article published on 26 July 2019

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency. ⬇️

artículo científico publicado en 2008

Di- and trihydroxycholestanaemia in twin sisters

artículo científico publicado en 1991

Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene

artículo científico publicado en 2012

Different restriction fragment pattern of mtDNA indicative of generalized 8993 point mutations in a boy with lactic acidosis

artículo científico publicado en 1994

Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206.

artículo científico publicado en 2004

Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.

artículo científico publicado en 2001

Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures.

artículo científico publicado en 2010

Enzyme replacement therapy for Gaucher disease in twin pregnancy

artículo científico publicado en 2009

Erratum to Pulmonary storage with emphysema as a sign of Niemann-Pick type C2 disease (second complementation group)

scholarly article published in Virchows Archiv

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

scientific article published on 01 May 2015

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

Expression and processing of the TMEM70 protein

artículo científico publicado en 2010

Fumaric aciduria: mild phenotype in a 8-year-old girl with novel mutations

artículo científico publicado en 2006

Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome

artículo científico publicado en 2003

GAPO syndrome (Radiographic clues to early diagnosis).

artículo científico publicado en 1997

Gene symbol: HMBS. Disease: Porphyria, acute intermittent

article

Gene symbol: MECP2. Disease: Rett syndrome

scientific article published on 01 October 2008

Genetic defects of cytochrome c oxidase assembly.

artículo científico publicado en 2004

Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.

artículo científico publicado en 2016

Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient

artículo científico publicado en 2014

HOMOZYGOUS VARIEGATE PORPHYRIA

artículo científico publicado en 1984

Hajdu–Cheney syndrome in a 3 1/2 year old girl

article

Hb Nottingham or α2β2 98 (FG5) Val→Gly in a Czech child

artículo científico publicado en 1994

High-resolution melting analysis for identifying sequence variations in nuclear genes for assembly factors and structural subunits of cytochrome c oxidase.

artículo científico publicado en 2015

High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency.

artículo científico publicado en 2012

Homocystinuria

artículo científico publicado en 1985

Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy

artículo científico publicado en 2003

Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations

artículo científico publicado en 2013

Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male

scientific article published on 01 January 2012

Impact of age at onset and newborn screening on outcome in organic acidurias

artículo científico publicado en 2015

Incorrect assignment of N370S mutation status by mismatched PCR/RFLP method in two Gaucher patients

scientific article published on 01 August 1997

Increased erythrocyte protoporphyrin in homozygous variegate porphyria

artículo científico publicado en 1985

Intellectual and school performance in adolescents with phenylketonuria according to their dietary compliance

artículo científico publicado en 1996

Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances

artículo científico publicado en 2015

Knockdown of human Oxa1l impairs the biogenesis of F1Fo-ATP synthase and NADH:ubiquinone oxidoreductase

artículo científico publicado en 2007

LACE1 interacts with p53 and mediates its mitochondrial translocation and apoptosis

artículo científico publicado en 2016

Lactate dehydrogenase in the cerebrospinal fluid in 57 hypoxic neonates

artículo científico publicado en 1990

Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.

artículo científico publicado en 2013

Large proteoglycan complexes and disturbed collagen architecture in the corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome).

artículo científico publicado en 2011

Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families

artículo científico publicado en 2007

Lipoprotein lipase deficiency: clinical, biochemical and molecular characteristics in three patients with novel mutations in the LPL gene

artículo científico publicado en 2014

Liver findings in Niemann-Pic disease type C

artículo científico publicado en 1984

Loss of function of Sco1 and its interaction with cytochrome c oxidase

artículo científico publicado en 2009

MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning

artículo científico publicado en 2016

Maternal hyperphenylalaninemias in healthy Czech population of pregnant women: 30 years experience with screening, prevention and treatment.

artículo científico publicado en 2004

Metabolic complications and neurologic manifestations of vitamin B12 deficiency in children of vegetarian mothers

artículo científico publicado en 2001

Metabolic study in a child with Leigh's syndrome and deficient activity in complex I of the respiratory chain

artículo científico publicado en 1993

Mevalonic aciduria

artículo científico publicado en 1991

Mitochondrial DNA content and expression of genes involved in mtDNA transcription, regulation and maintenance during human fetal development

artículo científico publicado en 2010

Mitochondrial DNA depletion in Alpers syndrome

artículo científico publicado en 2004

Mitochondrial DNA haplogroups in the Czech population compared to other European countries.

artículo científico publicado en 2008

Mitochondrial Membrane Potential and ATP Production in Primary Disorders of ATP Synthase

article

Mitochondrial Respiration in the Platelets of Patients with Alzheimer's Disease

artículo científico publicado en 2016

Mitochondrial cardiomyopathy--case report

artículo científico publicado en 2002

Mitochondrial diseases and ATPase defects of nuclear origin.

artículo científico publicado en 2004

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

artículo científico publicado en 2010

Mitochondrial energy metabolism in very premature neonates

artículo científico publicado en 2002

Mitochondrial membrane assembly of TMEM70 protein.

artículo científico publicado en 2014

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

artículo científico publicado en 2006

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

artículo científico publicado en 2012

Monoamine neurotransmitters and metabolites in the cerebrospinal fluid following perinatal asphyxia

artículo científico publicado en 1995

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.

artículo científico publicado en 2013

Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

artículo científico publicado en 2009

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

artículo científico publicado en 2008

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.

artículo científico publicado en 2011

Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.

artículo científico publicado en 2016

Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms

article

Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation

artículo científico publicado en 2014

Mutations in ANTXR1 cause GAPO syndrome.

artículo científico publicado en 2013

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

artículo científico publicado en 2006

Natural history of alpha mannosidosis a longitudinal study

artículo científico publicado en 2013

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis

artículo científico publicado en 2012

Neurochemical and biophysical assessment of neonatal hypoxic-ischemic encephalopathy

artículo científico publicado en 1994

Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of the 'Prague NCL group'.

artículo científico publicado en 1997

Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay

artículo científico publicado en 2014

Non-ketotic hyperglycinemia

artículo científico publicado en 1990

Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry

artículo científico publicado en 2014

Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent

article

Novel insights into the assembly and function of human nuclear-encoded cytochromecoxidase subunits 4, 5a, 6a, 7a and 7b

artículo científico publicado en 2010

Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency

artículo científico publicado en 2001

Novel mutations in the TAZ gene in patients with Barth syndrome

artículo científico publicado en 2013

Novel mutations in the tyrosine hydroxylase gene in the first Czech patient with tyrosine hydroxylase deficiency

artículo científico publicado en 2012

NovelFBN1gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome

article

Occipitocervical stabilization using bilateral laminar C2 screws in children with mucopolysaccharidosis IVA.

artículo científico publicado en 2015

Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP.

artículo científico publicado en 2010

Opsismodysplasia: A case report

artículo científico publicado en 1997

Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.

artículo científico publicado en 2013

Osteoporosis ? Pseudoglioma syndrome: report of threee brothers

PW03-008 – Mitochondrial disturbances in Schnitzler syndrome.

artículo científico publicado en 2013

Partial trisomy 1q25-1q32 in a boy with isolated lactase deficiency

scientific article published on 01 February 1990

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

artículo científico publicado en 2006

Placental tissue as model for pilot study focused on RNA analysis from human foetal tissue.

artículo científico publicado en 2011

Polarographic evaluation of mitochondrial enzymes activity in isolated mitochondria and in permeabilized human muscle cells with inherited mitochondrial defects

artículo científico publicado en 2003

Post-natal growth of 157 children born as extremely premature neonates.

artículo científico publicado en 2010

Posterior Reversible Encephalopathy Syndrome (PRES) in 5-year-old girl with nephrotic syndrome.

artículo científico publicado en 2010

Prenatal diagnosis of systemic disorders of the respiratory chain in cultured chorionic villus fibroblasts by study of ATP-synthesis in digitonin-permeabilized cells

artículo científico publicado en 1996

Primary biliary cirrhosis--specific anti-mitochondrial antibodies

artículo científico publicado en 2004

Prolonged impairment of polymorphonuclear cells functions in one infant with transient zinc deficiency: a case report.

artículo científico publicado en 2008

Pulmonary storage with emphysema as a sign of Niemann-Pick type C2 disease (second complementation group). Report of a case.

artículo científico publicado en 2001

RFT1-CDG in adult siblings with novel mutations

artículo científico publicado en 2012

Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I.

artículo científico publicado en 2009

Reply to Comment on: Sideroblastic anemia associated with multisystem mitochondrial disorders

artículo científico publicado en 2019

Response to the ‘letter to the Editor’

item in European Journal of Paediatric Neurology (July 2011)

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

artículo científico publicado en 2005

Rett syndrome: clinical and molecular aspects

artículo científico publicado en 2007

Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase

scientific article published on 01 January 1995

SURF1 missense mutations promote a mild Leigh phenotype.

artículo científico publicado en 2009

Segregation pattern and biochemical effect of the G3460A mtDNA mutation in 27 members of LHON family

artículo científico publicado en 2004

Specific properties of heavy fraction of mitochondria from human-term placenta - glycerophosphate-dependent hydrogen peroxide production.

artículo científico publicado en 2005

Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene

artículo científico publicado en 2008

TMEM70 deficiency: long-term outcome of 48 patients

artículo científico publicado en 2014

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

artículo científico publicado en 2008

TMEM70 protein — A novel ancillary factor of mammalian ATP synthase

artículo científico publicado en 2008

The clinical spectrum of mitochondrial disease in 75 pediatric patients

artículo científico publicado en 2003

The developmental changes in mitochondrial DNA content per cell in human cord blood leukocytes during gestation

artículo científico publicado en 2007

The effect of amino acids on neurotransmitter metabolites in the cerebrospinal fluid

artículo científico publicado en 1991

The impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissues

The influence of temperature and hydration on the sorption properties of bentonite

artículo científico publicado en 2007

The mammalian homologue of yeast Afg1 ATPase (lactation elevated 1) mediates degradation of nuclear-encoded complex IV subunits

artículo científico publicado en 2016

The phenotypic spectrum of fifty Czech m.3243A>G carriers.

artículo científico publicado en 2016

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

Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature

artículo científico publicado en 2016

Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1

artículo científico publicado en 2005

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.

artículo científico publicado en 2011

Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing.

artículo científico publicado en 2016

Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.

artículo científico publicado en 2011

Ultra-low-dose CT Imaging of the Thorax: Decreasing the Radiation Dose by One Order of Magnitude

artículo científico publicado en 2016

Ultrastructural Changes of Mitochondria in the Cultivated Skin Fibroblasts of Patients with Point Mutations in Mitochondrial DNA

artículo científico publicado en 2006

Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from α-mannosidosis patients

Unusual clinical presentation in two boys with cytochrome c oxidase deficiency

artículo científico publicado en 1992

Vascular presentation of cystathionine beta-synthase deficiency in adulthood.

artículo científico publicado en 2010

Warburg effect's manifestation in aggressive pheochromocytomas and paragangliomas: insights from a mouse cell model applied to human tumor tissue

artículo científico publicado en 2012

X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female

artículo científico publicado en 2016

X-linked dominant chondrodysplasia punctata (CDPX2): multisystemic impact of the defect in cholesterol biosynthesis.

artículo científico publicado en 2007

YME1L controls the accumulation of respiratory chain subunits and is required for apoptotic resistance, cristae morphogenesis, and cell proliferation

artículo científico publicado en 2012

[Acid-base equilibrium in the cerebrospinal fluid in critically ill newborn infants]

artículo científico publicado en 1983

[Analysis of the most frequent mutations in girls with Rett syndrome]

artículo científico publicado en 2001

[Blood pressure in the 2d year of life]

artículo científico publicado en 1984

[Blood pressure values in infants and young children in relation to the duration of breast feeding]

artículo científico publicado en 1981

[Carnosinemia (author's transl)]

artículo científico publicado en 1981

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

artículo científico publicado en 2003

[Corneal ulceration complicating surgical correction of ptosis in patient with Kearns-Sayre syndrome--a case report]

artículo científico publicado en 2011

[Disorders of mitochondrial energy metabolism in patients with the Kearns-Sayre syndrome]

artículo científico publicado en 2002

[Enzyme therapy in children with severe forms of Gaucher's disease]

artículo científico publicado en 1997

[Experience with measuring the level of serum theophylline in infants and toddlers]

artículo científico publicado en 1983

[Hereditary disorders of mitochondrial ATP synthase]

scientific article published on 01 January 2004

[Isovaleric aciduria]

artículo científico publicado en 1983

[Lead poisoning in an infant]

artículo científico publicado en 1986

[Leber's hereditary optic nerve neuropathy]

artículo científico publicado en 1999

[Leber's hereditary optic neuropathy]

artículo científico publicado en 1999

[Lysosomal acid lipase deficiency. Overview of Czech patients]

article

[Lysosomal sphingomyelinase deficiency: spectrum of phenotypes in Czech and Slovak patients]

artículo científico publicado en 2001

[Maternal hyperphenylalaninemia in a population of healty Czech women. 18 years' experience with mass screening, diet therapy and metabolic monitoring]

artículo científico publicado en 1996

[Metabolic studies in 28 families of patients with cystinuria]

artículo científico publicado en 1988

[Metabolic study of the classic form of leucinosis during exchange transfusion therapy]

artículo científico publicado en 1987

[Mitochondrial myopathy, deafness and type 2 diabetes mellitus with tRNALeu(UUR) point mutation in mitochondrial DNA]

scientific article published on 01 July 1998

[Mucolipidosis II (I cell disease). First case report in the Czech Republic and prenatal diagnosis in a family]

artículo científico publicado en 1997

[Phenylketonuria undiagnosed, unrecognizable and neglected. Review of failures in diagnosis, therapy, and prevention of hereditary disorders of phenylalanine]

artículo científico publicado en 1987

[Pneumonia in children hospitalized at the 4th pediatric clinic in Prague during 1980]

scientific article published on 01 April 1982

[Porphyria variegata with clinical manifestations in the first days of life]

artículo científico publicado en 1985

[Pregnancy and labor complications in patients with reduced and elevated excretion of estrogens in urine]

artículo científico publicado en 1982

[Prenatal diagnosis in families with cytochrome C oxidase disorder].

artículo científico publicado en 2000

[Primary dysplastic ossification of the hip joints]

scientific article published on 01 June 1984

[Psychiatric disturbances in five patients with MELAS syndrome]

artículo científico publicado en 2014

[The significance of studying estrogens in pregnancy for the prognosis of the child's development]

artículo científico publicado en 1983

[Transient hyperammonemia in a full-term newborn infant]

artículo científico publicado en 1984

[Variation in manifestations of heteroplasmic mtDNA mutation 8993 T>G in two families]

artículo científico publicado en 2002

cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.

artículo científico publicado en 2005

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