Published in J Pediatr on July 01, 1993
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis (2006) 1.32
Increased urinary leukotriene E(4) during febrile attacks in the hyperimmunoglobulinaemia D and periodic fever syndrome. Arch Dis Child (2001) 0.79
Effect of plasma alpha-tocopherol on leukotriene E4 excretion in genetic vitamin E deficiency. J Inherit Metab Dis (1997) 0.75
Leukotrienes in the pathophysiology of kwashiorkor. Lancet (1993) 3.14
White matter disease in cerebral organic acid disorders: clinical implications and suggested pathomechanisms. Neuropediatrics (2002) 2.10
Mild trimethylaminuria caused by common variants in FMO3 gene. Lancet (1999) 2.07
Molecular analysis of katG gene mutations in strains of Mycobacterium tuberculosis complex from Africa. Antimicrob Agents Chemother (1997) 1.99
Vitamin A supplementation in malnourished Sudanese children. Int J Vitam Nutr Res (1991) 1.95
Comparison of DNA fingerprint patterns of isolates of Mycobacterium africanum from east and west Africa. J Clin Microbiol (1997) 1.88
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology (2010) 1.88
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet (1998) 1.78
Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. J Pediatr (1997) 1.76
Screening for defects of branched-chain amino acid metabolism. Eur J Pediatr (1994) 1.67
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. Am J Hum Genet (2000) 1.61
Tetrahydrobiopterin deficiency in human rabies. J Inherit Metab Dis (2008) 1.56
A new agent of mycobacterial lymphadenitis in children: Mycobacterium heidelbergense sp. nov. J Clin Microbiol (1997) 1.52
Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency. Eur J Pediatr (1984) 1.47
Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy. J Pediatr (2000) 1.45
Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency. Neuropediatrics (2000) 1.44
Body growth in primary de Toni-Debré-Fanconi syndrome. Pediatr Nephrol (1997) 1.44
Glutaric aciduria type II: report on a previously undescribed metabolic disorder. Clin Chim Acta (1976) 1.44
Abuse or metabolic disorder? Arch Dis Child (1998) 1.42
[On phenylketonuria. Carrying out of phenylalanine-low diet]. Dtsch Med Wochenschr (1967) 1.42
D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity? Ann Neurol (1999) 1.41
Neonatal screening for glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis (2004) 1.41
Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy. Pediatrics (1991) 1.41
4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism. Neuropediatrics (1998) 1.37
Cervical lymphadenitis in a child caused by a previously unknown mycobacterium. J Infect Dis (1993) 1.35
Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria. J Clin Invest (1999) 1.35
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis (2007) 1.31
Leukoencephalopathy with ataxia, hypodontia, and hypomyelination. Neurology (2005) 1.26
Mutation analysis in glutaric aciduria type I. J Med Genet (2000) 1.23
Neurodegeneration and chronic renal failure in methylmalonic aciduria--a pathophysiological approach. J Inherit Metab Dis (2007) 1.22
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS). J Inherit Metab Dis (2007) 1.20
High prevalence of vitamin D deficiency in young children in a highly sunny humid country: a global health problem. Minerva Pediatr (2009) 1.19
Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997. Eur J Pediatr (1999) 1.17
Neurological outcome in adult patients with early-treated phenylketonuria. Eur J Pediatr (1998) 1.17
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Ann Neurol (1992) 1.16
Diagnosis and management of glutaric aciduria type I. J Inherit Metab Dis (1998) 1.15
Acrodermatitis acidemica secondary to malnutrition in glutaric aciduria type I. Eur J Dermatol (2001) 1.14
Pyridoxal phosphate-dependent neonatal epileptic encephalopathy. Arch Dis Child Fetal Neonatal Ed (2008) 1.12
Transmission dynamics of tuberculosis in a high-incidence country: prospective analysis by PCR DNA fingerprinting. J Clin Microbiol (1999) 1.12
Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism. Pediatr Res (2000) 1.10
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. Eur J Hum Genet (2001) 1.09
Biochemical hallmarks of tyrosine hydroxylase deficiency. Clin Chem (1998) 1.09
Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meeting. Eur J Pediatr (1997) 1.08
Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice). Neurochem Int (2007) 1.08
Leukotrienes: biosynthesis, metabolism, and pathophysiologic significance. Pediatr Res (1995) 1.08
Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I. J Inherit Metab Dis (1999) 1.08
Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up. J Inherit Metab Dis (2009) 1.08
Nutrient intake and food consumption of adolescents and young adults with phenylketonuria. Acta Paediatr (1995) 1.06
The selenium state of children. II. Selenium content of serum, whole blood, hair and the activity of erythrocyte glutathione peroxidase in dietetically treated patients with phenylketonuria and maple-syrup-urine disease. Eur J Pediatr (1978) 1.04
Letter: Absorption of zinc in acrodermatitis enteropathica. Lancet (1975) 1.04
Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg. J Inherit Metab Dis (2007) 1.03
Alpha-ketoadipic aciduria: degradation studies with fibroblasts,. Clin Chim Acta (1975) 1.02
Phenylketonuria mutations in Germany. Hum Genet (1999) 1.01
Erythropoietic and hepatic porphyrias. J Inherit Metab Dis (2000) 1.00
Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins. J Inherit Metab Dis (1997) 0.99
Molecular and functional characterisation of mild MCAD deficiency. Hum Genet (2001) 0.99
Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias. Pediatr Res (1993) 0.99
Alpha-ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies. Clin Chim Acta (1975) 0.99
Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome. J Inherit Metab Dis (2007) 0.98
Molecular cloning of human phosphomevalonate kinase and identification of a consensus peroxisomal targeting sequence. J Biol Chem (1996) 0.98
Neonatal screening for glutaric aciduria type I: strategies to proceed. J Inherit Metab Dis (2006) 0.97
Fat content and fatty acid composition of infant formulas. Acta Paediatr Scand (1989) 0.97
A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder. Ann Hum Genet (2000) 0.97
Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry. Am J Hum Genet (1999) 0.96
A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy. J Inherit Metab Dis (2002) 0.96
Comprehensive analysis of pyrimidine metabolism in 450 children with unspecific neurological symptoms using high-pressure liquid chromatography-electrospray ionization tandem mass spectrometry. J Inherit Metab Dis (2005) 0.96
Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis. J Inherit Metab Dis (1999) 0.95
Tolerance of phenylalanine after ntravenous administration in phenylketonurics, heterozygous carriers, and normal adults. Nature (1966) 0.95
Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I. Clin Chem (2001) 0.95
Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndrome. J Neurol Sci (2001) 0.95
Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies. Neuropediatrics (2002) 0.95
Fatty acid and lipid composition of children's food. I. Analytical methods; composition of commercially available supplementary foods for juniors. Z Ernahrungswiss (1984) 0.95
Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF. Neurology (2004) 0.94
Inborn errors of metabolism and motor disturbances in children. J Inherit Metab Dis (2009) 0.94
Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome. J Inherit Metab Dis (2008) 0.94
Maintenance treatment of glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis (2004) 0.93
Intellectual development of the patients of the German Collaborative Study of children treated for phenylketonuria. Eur J Pediatr (1996) 0.93
Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism. J Inherit Metab Dis (2008) 0.92
Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis (2004) 0.92
Prevalence of enteropathogenic and enterotoxigenic Escherichia coli in children with and without diarrhoea in Esteli, Nicaragua. J Diarrhoeal Dis Res (1993) 0.92
A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations. Neuropediatrics (2001) 0.92
Expanded newborn screening in Europe 2007. J Inherit Metab Dis (2007) 0.92
Newborn screening for methylmalonic acidurias--optimization by statistical parameter combination. J Inherit Metab Dis (2008) 0.92
L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase. J Inherit Metab Dis (1993) 0.91
Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation? J Inherit Metab Dis (1997) 0.91
Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency. Neuropediatrics (2006) 0.91
Glutaric aciduria and suspected child abuse. Arch Dis Child (1999) 0.91
Qualitative urinary organic acid analysis: methodological approaches and performance. J Inherit Metab Dis (2008) 0.90
Effects of dietary long-chain polyunsaturated fatty acids on the essential fatty acid status of premature infants. Eur J Pediatr (1989) 0.90
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency. Am J Med Genet (1998) 0.90
Survival time in cystinosis. A collaborative study. Proc Eur Dial Transplant Assoc (1983) 0.90
Inherited disorders of cholesterol biosynthesis. Neuropediatrics (2001) 0.90
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts. J Med Genet (2007) 0.90
Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy. Neuropediatrics (2002) 0.90
Emergency treatment in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis (2004) 0.90
Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency. J Biol Chem (1997) 0.90
Neurological manifestations of organic acid disorders. Eur J Pediatr (1994) 0.89
Fatty acid composition of mature human milk in Germany. Am J Clin Nutr (1988) 0.89
Early onset epilepsy and inherited metabolic disorders: diagnosis and management. Can J Neurol Sci (2010) 0.89
Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? Neuropediatrics (2000) 0.89