J. Zeman

M. Tesařová, J. Zeman, T. Honzík, 2011, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

M. Tesařová, J. Zeman, A. Hruštincová, 2016, Physiological research.

Mitochondrial membrane assembly of TMEM70 protein.

K. Hejzlarová, M. Tesařová, M. Vrbacký, 2014, Mitochondrion.

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

M. Tesařová, J. Zeman, T. Honzík, 2014, Folia biologica.

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

L. de Meirleir, J. Zeman, P. Hensman, 2011, Orphanet journal of rare diseases.

The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions

M. Tesařová, J. Zeman, J. Zamecnik, 2020, Brain sciences.

RFT1-CDG in adult siblings with novel mutations.

K. Vesela, J. Zeman, T. Honzík, 2012, Molecular genetics and metabolism.

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

J. Zeman, H. Shintaku, W. Endres, 1987, European Journal of Pediatrics.

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.

H. Antonicka, J. Zeman, J. Houštěk, 1999, The Biochemical journal.

Monoamine neurotransmitters and metabolites in the cerebrospinal fluid following perinatal asphyxia.

J. Zeman, M. Blennow, H. Lagercrantz, 1995, Biology of the neonate.

CblE type of homocystinuria due to methionine synthase reductase deficiency: Clinical and molecular studies and prenatal diagnosis in two families

T. Suormala, J. Zeman, V. Kožich, 2002, Journal of Inherited Metabolic Disease.

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

J. Zeman, E. Hrubá, T. Honzík, 2010, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

K. Hodaňová, J. Zeman, M. Elleder, 1996, Virchows Archiv.

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

J. Zeman, H. Hulkova, H. Hansíková, 2009, American journal of physiology. Cell physiology.

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

L. de Meirleir, J. Zeman, O. Bodamer, 2007, European Journal of Pediatrics.

Easy‐to‐use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

L. de Meirleir, J. Zeman, A. Lund, 2018, Acta paediatrica.

Hematopoietic stem cell transplantation in children with inborn errors of metabolism and malignant infantile osteopetrosis

J. Zeman, J. Starý, T. Honzík, 2022, Česko-slovenská pediatrie.

Inborn Metabolic Diseases: Diagnosis and Treatment

Jiri Zeman, J. Zeman, 2012 .

HOMOZYGOUS VARIEGATE PORPHYRIA

J. Zeman, P. Martásek, Y. Nordmann, 1984, The Lancet.

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

M. Tesařová, J. Zeman, S. Kmoch, 2010, Archives of Disease in Childhood.

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

M. Capek, M. Tesařová, J. Zeman, 2015, Ultrastructural pathology.

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

H. Mandel, M. Hochuli, J. Jordan, 2014, Orphanet Journal of Rare Diseases.

Deficiency of mitochondrial ATP synthase of nuclear genetic origin

E. Holme, J. Zeman, J. Houštěk, 2006, Neuromuscular Disorders.

Homozygous missense mutation in UQCRC2 associated with severe encephalomyopathy, mitochondrial complex III assembly defect and activation of mitochondrial protein quality control.

M. Tesařová, J. Zeman, Václav Martínek, 2021, Biochimica et biophysica acta. Molecular basis of disease.

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

M. Baumgartner, T. Suormala, P. Chinnery, 2016, Journal of Inherited Metabolic Disease.

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

M. Baumgartner, J. Zeman, S. Kölker, 2016, Journal of Inherited Metabolic Disease.

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

M. Baumgartner, J. Zeman, S. Kölker, 2016, Journal of Inherited Metabolic Disease.

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

M. Tesařová, J. Zeman, J. Zamecnik, 2016, Cardiology in the Young.

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

J. Zeman, M. Couce, A. Chakrapani, 2016, Journal of Inherited Metabolic Disease.

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

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

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

J. Zeman, E. Hrubá, L. Dvořáková, 2004, Acta paediatrica.

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

R. Schutgens, J. Zeman, R. Wanders, 1991, Clinica chimica acta; international journal of clinical chemistry.

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

J. Zeman, L. Stiburek, 2010, Biochimica et biophysica acta.

Biogenesis of eukaryotic cytochrome c oxidase.

M. Tesařová, J. Zeman, H. Hansíková, 2006, Physiological research.

CYTOCHROME C OXIDASE DEFICIENCY IN CHILDHOOD

M. Tesařová, J. Zeman, E. Pronicka, 2008 .

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

J. Zeman, J. Houštěk, E. Pronicka, 2004, American journal of physiology. Cell physiology.

Genetic defects of cytochrome c oxidase assembly.

J. Zeman, J. Houštěk, P. Pecina, 2004, Physiological research.

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

J. Zeman, J. Houštěk, C. Godinot, 2003, Biochimica et biophysica acta.

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

J. Zeman, J. Kraus, J. Franc, 1997, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

W. Sessa, K. Hodaňová, H. Hartmannová, 2014, Cell metabolism.

Leberova hereditární neuropatie optiku

M. Tesařová, J. Zeman, P. Havránková, 2018 .

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

Z. Sedlacek, P. Hedvičáková, M. Tesařová, 2006, Biochemical and biophysical research communications.

Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency—A Retrospective Nationwide Study

J. Zeman, E. Hrubá, T. Adam, 2021, Nutrients.

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

Katerina Vesela, Hana Hansikova, Jiri Zeman, 2012, Journal of Human Genetics.

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

J. Zeman, S. Kmoch, M. Hřebíček, 2001, Human mutation.

The Clinical Spectrum of Mitochondrial Disease in 75 Pediatric Patients

J. Zeman, J. Zeman, S. Stöckler‐Ipsiroglu, 2003, Clinical pediatrics.

Additional file 14

S. Seneca, P. Divina, M. Tesařová, 2012 .

Alcohol and drug intoxications in adolescents admitted to paediatric wards in the Czech Republic: 5-year retrospective study 2006-2010.

J. Zeman, J. Kobr, L. Šašek, 2018, Central European journal of public health.

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

T. Hudson, A. Verner, A. Pshezhetsky, 2006, American journal of human genetics.

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

J. Zeman, E. Hrubá, M. Buncová, 2001, Casopis lekaru ceskych.

Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families

N. Chuzhanova, J. Zeman, M. Jirsa, 2013, Clinical genetics.

Loss of function of Sco 1 and its interaction with cytochrome c oxidase

J. Zeman, H. Hulkova, H. Hansíková, 2009 .

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

Machiko Kadoya, Y. Wada, R. Wevers, 2011, Journal of Inherited Metabolic Disease.

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

M. Tesařová, V. Havlíčková, J. Zeman, 2010, Mitochondrion.

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

J. Zeman, M. Elleder, H. Poupětová, 2001, Virchows Archiv.

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

M. Tesařová, H. Kratochvílová, J. Zeman, 2013, European Journal of Human Genetics.

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

J. Zeman, M. Elleder, H. Hulkova, 2008, Acta Pathologica, Microbiologica et Immunologica Scandinavica (APMIS).

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

M. Tesařová, J. Zeman, J. Houštěk, 2004, Acta paediatrica.

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.

J. Zeman, M. Hřebíček, L. Dvořáková, 2016, Folia biologica.

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

A. Hlavatá, J. Zeman, E. Hrubá, 2017, Clinical genetics.

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

M. Tesařová, J. Zeman, J. Zamecnik, 2011, Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti.

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

J. Zeman, S. Kmoch, N. Gregersen, 1995, Journal of Inherited Metabolic Disease.

Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency

J. Zeman, M. Jirsa, T. Honzík, 2018, Virchows Archiv.

Increased erythrocyte protoporphyrin in homozygous variegate porphyria.

J. Zeman, P. Martásek, A. Rubín, 1985, Photo-dermatology.

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

L. Kovács, M. Tesařová, J. Zeman, 2016, European Journal of Pediatrics.

Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency.

J. Zeman, S. Kmoch, H. Hansíková, 2001, Medical science monitor : international medical journal of experimental and clinical research.

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

K. Hejzlarová, M. Tesařová, M. Vrbacký, 2008, Nature Genetics.

Molecular Genetics and Metabolism

J. Zeman, T. Honzík, H. Hansíková, 2012 .

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.

J. Zeman, J. Houštěk, H. Hansíková, 1995, Biochimica et biophysica acta.

Stable COX17 Downregulation Leads to Alterations in Mitochondrial Ultrastructure, Decreased Copper Content and Impaired Cytochrome c Oxidase Biogenesis in HEK293 Cells.

J. Zeman, H. Hansíková, L. Stiburek, 2019, Folia biologica.

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

J. Zeman, T. Honzík, H. Hansíková, 2008, Early human development.

Otorhinolaryngological manifestations in 61 patients with mucopolysaccharidosis.

J. Zeman, P. Ješina, V. Malinová, 2020 .

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

A. Hlavatá, J. Zeman, C. Beesley, 2009, American journal of medical genetics. Part A.

Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patient.

P. Kuchynka, M. Tesařová, J. Zeman, 2020, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

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

J. Zeman, V. Beneš, P. Vaněk, 2015, European Spine Journal.

An atypical ultrastructural pattern in Fabry's disease: a study on its nature and incidence in 7 cases.

J. Zeman, M. Elleder, D. Stejskal, 1990, Ultrastructural pathology.

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

J. H. van der Lee, C. Hollak, J. Zeman, 2012, Orphanet Journal of Rare Diseases.

Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.

H. Simmonds, J. Tischfield, J. Zeman, 1999, Molecular genetics and metabolism.

[Tracheal stent implantation in an adult patient with Hunter syndrome].

J. Zeman, M. Magner, M. Otáhal, 2020 .

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

J. Zeman, P. Martásek, A. Baxová, 2007, Journal of Human Genetics.

Bone mineral density in patients with phenylketonuria

J. Zeman, J. Stepan, M. Bayer, 1999, Acta paediatrica.

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

J. Zeman, M. Vaněčková, Z. Seidl, 2010, Neuro endocrinology letters.

Clinical manifestation of mitochondrial diseases.

J. Zeman, T. Honzík, H. Kolářová, 2015, Developmental period medicine.

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

J. Zeman, K. Sandhoff, M. Elleder, 2005, Journal of Inherited Metabolic Disease.

Mitochondrial Metabolism in a Large-Animal Model of Huntington Disease: The Hunt for Biomarkers in the Spermatozoa of Presymptomatic Minipigs

J. Zeman, D. Howland, J. Motlík, 2017, Neurodegenerative Diseases.

Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop

E. Bertini, S. Rahman, S. Parikh, 2018, Journal of Inherited Metabolic Disease.

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

M. Tesařová, J. Zeman, V. Dvorakova, 2016, Molecular genetics and metabolism.

C04 Reproductive parameters and mitochondrial function in spermatozoa of F1 and F2 minipig boars transgenic for n-terminal part of the human mutated huntingtin

J. Zeman, J. Motlík, J. Juhasova, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency

A. Baxova, M. Tesařová, J. Zeman, 2020, The Journal of dermatology.

The chromodiagnostic biliary intubation with the use of methylene blue.

J. Zeman, P. Frič, K. Herfort, 1960, Gastroenterologia.

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

K. Réblová, L. Fajkusová, J. Zeman, 2013, Clinica chimica acta; international journal of clinical chemistry.

A novel deficiency of mitochondrial ATPase of nuclear origin.

H. Antonicka, J. Zeman, S. Kmoch, 1999, Human molecular genetics.

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

J. Zeman, P. Martásek, Z. Fišar, 2016, Current Alzheimer research.

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

R. Rossi, J. Zeman, S. Kmoch, 2007, The Journal of pediatrics.

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

M. Tesařová, J. Zeman, J. Houštěk, 2014, BBA clinical.

Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP.

J. Zeman, S. Kmoch, D. Friedecký, 2010, Molecular genetics and metabolism.

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

M. Tesařová, J. Zeman, I. Barić, 2006, Journal of Inherited Metabolic Disease.

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort.

R. Płoski, K. Chrzanowska, M. Rydzanicz, 2019, Mitochondrion.

The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families.

L. Fajkusová, J. Zeman, L. Lambert, 2018, Prague medical report.

Mevalonic aciduria

K. Gibson, J. Zeman, V. Kožich, 1991, Journal of Inherited Metabolic Disease.

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

K. Hodaňová, J. Zeman, J. Aerts, 1997, Journal of Inherited Metabolic Disease.

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

J. Zeman, H. Hansíková, L. Wenchich, 2007, The International journal of eating disorders.

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

P. Kuchynka, M. Tesařová, J. Zeman, 2012, International heart journal.

TMEM70 deficiency: long-term outcome of 48 patients

E. Bertini, H. Mandel, S. Rahman, 2015, Journal of Inherited Metabolic Disease.

TMEM70 protein - a novel ancillary factor of mammalian ATP synthase.

J. Zeman, S. Kmoch, J. Houštěk, 2009, Biochimica et biophysica acta.

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

M. Tesařová, J. Zeman, T. Honzík, 2012, Prague medical report.

The relationship of mitochondrial dysfunction and the development of insulin resistance in Cushing’s syndrome

J. Zeman, M. Haluzík, V. Hána, 2019, Diabetes, metabolic syndrome and obesity : targets and therapy.

Isolated defects of mitochondrial ATP synthase: overview of 15 cases.

J. Zeman, J. Houštěk, W. Sperl, 2005 .

SURF1 missense mutations promote a mild Leigh phenotype

M. Pronicki, J. Zeman, E. Pronicka, 2009, Clinical genetics.

Mitochondrial diseases and ATPase defects of nuclear origin.

J. Zeman, J. Houštěk, T. Mráček, 2004, Biochimica et biophysica acta.

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.

M. Tesařová, V. Kaplanová, J. Zeman, 2004, The Biochemical journal.

[Various manifestations of the A8344G mtDNA heteroplasmic mutation in 4 families with the MERRF syndrome].

J. Zeman, J. Houštěk, E. Hrubá, 1999, Casopis lekaru ceskych.

Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient.

J. Zeman, A. Linhart, H. Vlaskova, 2018, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

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

J. Zeman, L. Eide, J. Motlík, 2019, Disease Models & Mechanisms.

Skeletal muscle in an early manifest transgenic minipig model of Huntington's disease revealed deterioration of mitochondrial bioenergetics and ultrastructure impairment.

J. Zeman, L. Eide, J. Motlík, 2019, Disease models & mechanisms.

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

M. Tesařová, H. Kratochvílová, J. Zeman, 2013, Molecular genetics and metabolism.

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

R. Wanders, J. Zeman, J. Houštěk, 1996, Journal of Inherited Metabolic Disease.

[Leber's hereditary optic neuropathy].

A. Gerinec, J. Zeman, J. Houštěk, 1999, Casopis lekaru ceskych.

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

J. Zeman, M. Elleder, T. Honzík, 2012, Molecular genetics and metabolism.

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

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

Severe phenotype of ATP6AP1‐CDG in two siblings with a novel mutation leading to a differential tissue‐specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation

M. Tesařová, J. Zeman, T. Honzík, 2020, Journal of inherited metabolic disease.

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

J. Zeman, J. Houštěk, H. Hansíková, 2016, The Biochemical journal.

Activities of mitochondrial respiratory chain complexes in platelets of patients with Alzheimer's disease and depressive disorder.

J. Zeman, Z. Fišar, J. Raboch, 2019, Mitochondrion.

Contiguous X-chromosome Deletion Syndrome Encompassing the BTK, TIMM8A, TAF7L, and DRP2 Genes

H. Ochs, K. Sullivan, A. Šedivá, 2007, Journal of Clinical Immunology.

White matter alteration and cerebellar atrophy are hallmarks of brain MRI in alpha-mannosidosis.

A. Hlavatá, J. Zeman, P. Dušek, 2020, Molecular genetics and metabolism.

Microarray and qPCR Analysis of Mitochondrial Metabolism Activation during Prenatal and Early Postnatal Development in Rats and Humans with Emphasis on CoQ10 Biosynthesis

P. Mlejnek, M. Tesařová, J. Zeman, 2021, Biology.

Large heterozygous deletions on 22q13.33 in combination with TYMP or SCO2 point mutations in two patients with mitochondrial disorders

M. Tesařová, J. Zeman, V. Stránecký, 2012 .

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

S. Seneca, P. Divina, M. Tesařová, 2008, BMC Genomics.

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

M. Tesařová, J. Zeman, M. Elleder, 2006, Ultrastructural pathology.

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

F. Jiru, J. Zeman, M. Dezortova, 2008, Magnetic Resonance Materials in Physics, Biology and Medicine.

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

J. Zeman, A. Pijáčková, J. Hyánek, 2009, European Journal of Pediatrics.

Enzyme replacement therapy for Gaucher disease in twin pregnancy

J. Zeman, L. Dvořáková, H. Poupětová, 2009, International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics.

Associations between breastfeeding rates and infant disease: A survey of 2338 Czech children.

J. Zeman, M. Magner, P. Frühauf, 2020, Nutrition & dietetics: the journal of the Dietitians Association of Australia.

Leber Hereditary Optic Neuropathy

M. Tesařová, J. Zeman, P. Havránková, 2017 .

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

M. Tesařová, J. Zeman, T. Honzík, 2014, Neuro endocrinology letters.

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

J. Zeman, T. Honzík, H. Hansíková, 2005, Prague medical report.

Inborn errors of amino acid, organic acid metabolism and disorders of the urea cycle

J. Zeman, T. Honzík, 2022, Česko-slovenská pediatrie.

Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene.

L. Nosková, J. Zeman, T. Honzík, 2020, Prague medical report.