Published in Eur J Obstet Gynecol Reprod Biol on January 30, 1991
Recurrent abdominal pain in children: psychiatric diagnoses and parental psychopathology. J Am Acad Child Adolesc Psychiatry (1990) 1.64
Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene. Acta Paediatr (2004) 1.55
Monoamine neurotransmitters and metabolites in the cerebrospinal fluid following perinatal asphyxia. Biol Neonate (1995) 1.39
Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange. Hum Mutat (2001) 1.38
Magneto infrared absorption in high electron density GaAs quantum wells. Phys Rev Lett (2001) 1.38
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 Inherit Metab Dis (2005) 1.36
Socialization of children's emotion regulation in mother-child dyads: a developmental psychopathology perspective. Dev Psychopathol (2001) 1.26
New insights in cardiac structural changes in patients with Fabry's disease. Am Heart J (2000) 1.22
Genetic defects of cytochrome c oxidase assembly. Physiol Res (2004) 1.20
Patterns of use of obstetrical interventions in 12 countries. Paediatr Perinat Epidemiol (1993) 1.07
Emotion management skills in sexually maltreated and nonmaltreated girls: a developmental psychopathology perspective. Dev Psychopathol (2000) 1.05
Epidemiology of severe sepsis in intensive care units in the Slovak Republic. Infection (2005) 1.05
Emotional understanding: a comparison of physically maltreating and nonmaltreating mother-child dyads. J Clin Child Psychol (1999) 1.00
The clinical spectrum of mitochondrial disease in 75 pediatric patients. Clin Pediatr (Phila) (2003) 1.00
Homozygous variegate porphyria. Lancet (1984) 0.99
"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity. Eur J Pediatr (1987) 0.99
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. Biochim Biophys Acta (1995) 0.98
Deficiency of mitochondrial ATP synthase of nuclear genetic origin. Neuromuscul Disord (2006) 0.96
[Corneal ulceration complicating surgical correction of ptosis in patient with Kearns-Sayre syndrome--a case report]. Cesk Slov Oftalmol (2011) 0.96
Mitochondrial DNA content and expression of genes involved in mtDNA transcription, regulation and maintenance during human fetal development. Mitochondrion (2010) 0.94
SURF1 missense mutations promote a mild Leigh phenotype. Clin Genet (2009) 0.90
[Long-term results of calcaneal fracture treatment by open reduction and internal fixation using a calcaneal locking compression plate from an extended lateral approach]. Acta Chir Orthop Traumatol Cech (2008) 0.89
Increased erythrocyte protoporphyrin in homozygous variegate porphyria. Photodermatol (1985) 0.87
Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency. Med Sci Monit (2001) 0.86
Novel mutations in the TAZ gene in patients with Barth syndrome. Prague Med Rep (2013) 0.86
Di- and trihydroxycholestanaemia in twin sisters. J Inherit Metab Dis (1991) 0.86
Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase. J Inherit Metab Dis (1995) 0.85
The developmental changes in mitochondrial DNA content per cell in human cord blood leukocytes during gestation. Physiol Res (2007) 0.85
Pulmonary storage with emphysema as a sign of Niemann-Pick type C2 disease (second complementation group). Report of a case. Virchows Arch (2001) 0.83
Fumaric aciduria: mild phenotype in a 8-year-old girl with novel mutations. J Inherit Metab Dis (2006) 0.82
Polarographic evaluation of mitochondrial enzymes activity in isolated mitochondria and in permeabilized human muscle cells with inherited mitochondrial defects. Physiol Res (2003) 0.81
Activities of respiratory chain complexes and pyruvate dehydrogenase in isolated muscle mitochondria in premature neonates. Early Hum Dev (2007) 0.81
Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients. J Inherit Metab Dis (1997) 0.81
Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy. J Inherit Metab Dis (2003) 0.81
CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families. J Inherit Metab Dis (2002) 0.81
[Clinical picture of homocystinuria with cystathionine beta-synthase deficiency in 19 Czech and Slovak patients]. Cas Lek Cesk (2000) 0.80
Carnitine concentrations in term and preterm newborns at birth and during the first days of life. Prague Med Rep (2005) 0.80
[Development of indications for cesarean section in the Czech Republic and certain developed countries]. Cas Lek Cesk (1992) 0.80
A novel deficiency of mitochondrial ATPase of nuclear origin. Hum Mol Genet (1999) 0.79
Reproductive outcome in women who lost their husbands in the course of pregnancy. Eur J Obstet Gynecol Reprod Biol (1989) 0.79
X-linked dominant chondrodysplasia punctata (CDPX2): multisystemic impact of the defect in cholesterol biosynthesis. Prague Med Rep (2007) 0.79
[Postmortem diagnosis of Fabry disease in a female heterozygote leading to the detection of undiagnosed manifest disease in the family]. Cas Lek Cesk (1999) 0.79
[A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome]. Cas Lek Cesk (2002) 0.79
Mitochondrial DNA depletion in Alpers syndrome. Neuropediatrics (2004) 0.79
Different restriction fragment pattern of mtDNA indicative of generalized 8993 point mutations in a boy with lactic acidosis. J Inherit Metab Dis (1994) 0.78
Countrywide analysis of perinatal outcome. J Perinat Med (1988) 0.78
A new case of ALG8 deficiency (CDG Ih). J Inherit Metab Dis (2009) 0.78
[Mid-term results of 360-degree lumbar spondylodesis with the use of a tantalum implant for disc replacement]. Acta Chir Orthop Traumatol Cech (2009) 0.78
Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria. J Inherit Metab Dis (2003) 0.78
GAPO syndrome (Radiographic clues to early diagnosis). Radiol Med (1997) 0.78
[Unilateral lumbosacral dislocation]. Zentralbl Chir (2007) 0.78
Biogenesis of eukaryotic cytochrome c oxidase. Physiol Res (2006) 0.78
A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient leigh syndrome and hypertrichosis. Mol Genet Metab (2001) 0.78
Mevalonic aciduria. J Inherit Metab Dis (1991) 0.78
Association of minor and trace elements with mineralogical constituents of urinary stones: a hard nut to crack in existing studies of urolithiasis. Environ Geochem Health (2013) 0.78
Study of the mechanism of the photoisomerization and photooxidation of bilirubin using a model for the phototherapy of hyperbilirubinemia. J Chromatogr (1991) 0.77
[Lysosomal acid lipase deficiency. Overview of Czech patients]. Cas Lek Cesk (1999) 0.77
A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency. Virchows Arch (1996) 0.77
[Lumbar total disc replacement. Short-term results]. Acta Chir Orthop Traumatol Cech (2012) 0.77
Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of the 'Prague NCL group'. Eur J Paediatr Neurol (1997) 0.77
Liver findings in Niemann-Pick disease type C. Histochem J (1984) 0.77
Prenatal diagnosis of systemic disorders of the respiratory chain in cultured chorionic villus fibroblasts by study of ATP-synthesis in digitonin-permeabilized cells. J Inherit Metab Dis (1996) 0.77
Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families. Clin Genet (2013) 0.77
Careprovider and obstetrical interventions--a comparative study of four European countries. Scand J Caring Sci (1993) 0.77
Effects of tandem shock waves combined with photosan and cytostatics on the growth of tumours. Folia Biol (Praha) (2011) 0.76
Analysis of expression profiles of genes involved in F(o)F(1)-ATP synthase biogenesis during perinatal development in rat liver and skeletal muscle. Physiol Res (2016) 0.76
Deficiency of pyruvate dehydrogenase complex in tissues of an eight month old infant. Biochem Mol Biol Int (1993) 0.76
[Disorders of mitochondrial energy metabolism in patients with the Kearns-Sayre syndrome]. Cas Lek Cesk (2002) 0.76
Adenylosuccinate lyase deficiency in a Czech girl and two siblings. Adv Exp Med Biol (1994) 0.76
[Anatomical ACL reconstruction by a double- versus a single-bundle technique. Prospective randomised study of short-term clinical results]. Acta Chir Orthop Traumatol Cech (2014) 0.76
[Primary biliary cirrhosis--specific anti-mitochondrial antibodies]. Vnitr Lek (2004) 0.75
Prolonged impairment of polymorphonuclear cells functions in one infant with transient zinc deficiency: a case report. Prague Med Rep (2008) 0.75
Activities of cytochrome c oxidase and citrate synthase in lymphocytes of obese and normal-weight subjects. Int J Obes Relat Metab Disord (2002) 0.75
Mitochondrial cardiomyopathy--case report. Cesk Patol (2002) 0.75
[Pneumonia in children hospitalized at the 4th pediatric clinic in Prague during 1980]. Cesk Pediatr (1982) 0.75
Hb Nottingham or alpha 2 beta 2 98 (FG5) Val-->Gly in a Czech child. Ann Hematol (1994) 0.75
[Pregnancy and labor complications in patients with reduced and elevated excretion of estrogens in urine]. Cesk Gynekol (1982) 0.75
Accumulation and impaired in vivo metabolism of di- and trihydroxycholestanoic acid in two patients. Clin Chim Acta (1991) 0.75
Neurochemical and biophysical assessment of neonatal hypoxic-ischemic encephalopathy. Semin Perinatol (1994) 0.75
[Lead poisoning in an infant]. Cesk Pediatr (1986) 0.75
[Metabolic complications and neurologic manifestations of vitamin B12 deficiency in children of vegetarian mothers]. Cas Lek Cesk (2001) 0.75
[Discrimination value of tests performed with the STAPHYtest Lachema from the aspect of clinical microbiology]. Cesk Epidemiol Mikrobiol Imunol (1994) 0.75
[Maternal hyperphenylalaninemia in a population of healty Czech women. 18 years' experience with mass screening, diet therapy and metabolic monitoring]. Cas Lek Cesk (1996) 0.75
[Porphyria variegata with clinical manifestations in the first days of life]. Cesk Pediatr (1985) 0.75
Unusual clinical presentation in two boys with cytochrome c oxidase deficiency. J Inherit Metab Dis (1992) 0.75
[Phosphoethanolamine in the blood and urine in sick children]. Cesk Pediatr (1991) 0.75
[Cystathioninuria]. Cesk Pediatr (1985) 0.75
[Variation in manifestations of heteroplasmic mtDNA mutation 8993 T>G in two families]. Cas Lek Cesk (2002) 0.75
[Experience with measuring the level of serum theophylline in infants and toddlers]. Cesk Pediatr (1983) 0.75
[Clinical picture and the results of treatment of gonorrhea with procaine penicillin with probenecid in patients of the Dermatological Clinic, Medical Academy in Cracow 1979-1983]. Przegl Dermatol (1985) 0.75
[Lysosomal sphingomyelinase deficiency: spectrum of phenotypes in Czech and Slovak patients]. Cas Lek Cesk (2001) 0.75
[Lactate dehydrogenase in the cerebrospinal fluid in 57 hypoxic neonates]. Cesk Pediatr (1990) 0.75
[Blood pressure in the 2d year of life]. Cesk Pediatr (1984) 0.75
[Is there a choledochus dilatation after cholecystectomy?]. Munch Med Wochenschr (1967) 0.75
[The significance of studying estrogens in pregnancy for the prognosis of the child's development]. Cesk Pediatr (1983) 0.75
[Perioral dermatitis in the light of our studies]. Przegl Dermatol (1986) 0.75
[Temperature and humidity regimens in halls for farrowing and suckling sows in large-capacity pig farms]. Vet Med (Praha) (1972) 0.75
[Homocystinuria]. Cesk Pediatr (1985) 0.75
[Problems of semi-liquid manure production--experience in the CSSR]. Monatsh Veterinarmed (1972) 0.75