Published in Dermatol Monatsschr on August 01, 1979
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics (1996) 2.08
Evidence from multiple gene sequences indicates that termites evolved from wood-feeding cockroaches. Curr Biol (2000) 1.90
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Pediatrics (1997) 1.86
Increasing effects of repetitive cocaine administration in the rat. Nature (1976) 1.85
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics (1993) 1.49
Comparative genomic hybridization reveals a recurrent pattern of chromosomal aberrations in severe dysplasia/carcinoma in situ of the cervix and in advanced-stage cervical carcinoma. Genes Chromosomes Cancer (1999) 1.40
The role of the NAD-dependent glutamate dehydrogenase in restoring growth on glucose of a Saccharomyces cerevisiae phosphoglucose isomerase mutant. Eur J Biochem (1993) 1.30
High resolution comparative genomic hybridisation in clinical cytogenetics. J Med Genet (2001) 1.29
Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals. Cytometry (1998) 1.29
STUDIES OF GALLBLADDER FUNCTION. XV. CHOLESTEROL IN HUMAN LIVER BILE. J Clin Invest (1937) 1.17
Primary treatment of propionic acidemia complicated by acute thiamine deficiency. J Pediatr (1996) 1.16
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Ann Neurol (1992) 1.16
Comparative genomic hybridization in clinical cytogenetics. Am J Hum Genet (1995) 1.15
Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase. Pediatr Res (1996) 1.14
Children's gender-based reasoning about toys. Child Dev (1995) 1.12
Deletions below 10 megabasepairs are detected in comparative genomic hybridization by standard reference intervals. Genes Chromosomes Cancer (1999) 1.11
Possibilities of selective screening for inborn errors of metabolism using high-resolution 1H-FT-NMR spectrometry. Eur J Pediatr (1986) 1.05
Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis (1995) 1.05
Comparative genomic hybridization reveals non-random chromosomal aberrations in early preinvasive cervical lesions. Cancer Genet Cytogenet (2001) 1.04
Laser photocoagulation of the iris. Arch Ophthalmol (1970) 1.03
Nonstandard imaging methods in electron microscopy. Ultramicroscopy (1977) 1.03
[Isovaleric acidemia combined with hypertrophic pylorstenosis (author's transl)]. Klin Padiatr (1979) 1.01
Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis. Eur J Pediatr (1982) 0.99
Double aberration correction in a low-energy electron microscope. Ultramicroscopy (2010) 0.98
Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy. Eur J Pediatr (1998) 0.98
THE END-RESULTS OF THYROIDECTOMY. Ann Surg (1942) 0.98
[Propionic acidemia associated with hypertrophic pyloric stenosis and bouts of severe hyperglycemia (author's transl)]. Monatsschr Kinderheilkd (1980) 0.97
Highly insulin-responsive isolated rat heart muscle cells yielded by a modified isolation method. Life Sci (1991) 0.97
Optimum HRTEM image contrast at 20 kV and 80 kV--exemplified by graphene. Ultramicroscopy (2011) 0.96
Transmission electron microscopy at 20 kV for imaging and spectroscopy. Ultramicroscopy (2011) 0.95
Risk factors in habitats of the tick Ixodes ricinus influencing human exposure to Ehrlichia phagocytophila bacteria. Med Vet Entomol (2001) 0.95
Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (gamma-vinyl-GABA). J Inherit Metab Dis (1996) 0.95
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
Protection of baculovirus-vectors against complement-mediated inactivation by recombinant soluble complement receptor type 1. Biol Chem (1999) 0.91
3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign. J Inherit Metab Dis (2000) 0.90
Transmission of methicillin-resistant Staphylococcus aureus via deceased donor liver transplantation confirmed by whole genome sequencing. Am J Transplant (2014) 0.90
A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria. Eur J Pediatr (1979) 0.89
High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes. Eur J Hum Genet (2000) 0.88
Phenylarsine oxide and hydrogen peroxide stimulate glucose transport via different pathways in isolated cardiac myocytes. Biochim Biophys Acta (1993) 0.87
Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene. J Inherit Metab Dis (2003) 0.86
[Radioenzymatic micromethod for the determination of UDP-glucuronic acid (author's transl)]. J Clin Chem Clin Biochem (1979) 0.86
Targeting the MHC class II pathway of antigen presentation enhances immunogenicity and safety of allergen immunotherapy. Allergy (2008) 0.85
The internal dose of passive smoking at home depends on the size of the dwelling. Environ Res (1997) 0.85
A reflection on partial coherence in electron microscopy. Ultramicroscopy (1977) 0.85
Suspected gangrenous ergotism in a wild roe deer (Capreolus capreolus). Vet Rec (1995) 0.85
Effects of secretin on extracellular amino acid concentrations in rat hippocampus. J Neural Transm (Vienna) (2004) 0.85
Economy of contraction of cardiomyocytes as influenced by different positive inotropic interventions. Am J Physiol (1996) 0.85
Pangloss and Jeremiah in science. Nature (1971) 0.85
Contraction-independent effects of catecholamines on glucose transport in isolated rat cardiomyocytes. Am J Physiol (1996) 0.85
A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria. Eur J Pediatr (1982) 0.85
Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. I. Clinical, metabolical, and biochemical findings. Eur J Pediatr (1982) 0.85
Magnetic resonance imaging in juvenile Canavan disease. Eur J Pediatr (1993) 0.84
Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele. J Inherit Metab Dis (1994) 0.84
Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection. Clin Chim Acta (1991) 0.84
Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency. Eur J Pediatr (1999) 0.83
Sequence and functional analysis of a 7.2 kb fragment of Saccharomyces cerevisiae chromosome II including GAL7 and GAL10 and a new essential open reading frame. Yeast (1995) 0.83
5-hydroxytryptamine stimulates glucose transport in cardiomyocytes via a monoamine oxidase-dependent reaction. Biochem J (1995) 0.82
3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency. Eur J Pediatr (1985) 0.82
Detection of chromosomal aberrations in seminomatous germ cell tumours using comparative genomic hybridization. Genes Chromosomes Cancer (1997) 0.82
Association of malonyl-CoA decarboxylase deficiency and heterozygote state for haemoglobin C disease. J Inherit Metab Dis (1994) 0.82
[Development of serum proteins of rats in the first month of life]. Acta Biol Med Ger (1970) 0.81
Automatic correction of the interfering effect of unsuppressed interspersed repetitive sequences in comparative genomic hybridization analysis. Cytometry (1997) 0.81
Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle. Mol Genet Metab (2004) 0.81
CT of thrombosed arteriovenous malformations in children. Radiology (1984) 0.81
Macrocephaly: an important indication for organic acid analysis. J Inherit Metab Dis (1991) 0.80
Alanine and hyperosmolarity are responsible for the stimulation of cardiomyocyte glucose transport by samples containing a glucose tolerance factor. Life Sci (1992) 0.80
Contraction and metabolic activity of electrically stimulated cardiac myocytes from adult rats. Pflugers Arch (1986) 0.80
Metabolic cause of Reye-like syndrome. Bratisl Lek Listy (2001) 0.80
The relationship of hyperglycemia to periodontal disease. J Periodontol (1973) 0.80
[Intermittent maple syrup urine disease in a 12-year-old boy: clinical aspects, diagnosis and treatment]. Klin Padiatr (1983) 0.79
Infantile multiple carboxylase deficiency: evidence for normal intestinal absorption but renal loss of biotin. Helv Paediatr Acta (1982) 0.79
The influence of intravenous medium- and long-chain triglycerides and carnitine on the excretion of dicarboxylic acids. JPEN J Parenter Enteral Nutr (1987) 0.79
Barriers in cardiac substrate supply. Basic Res Cardiol (1985) 0.79
Influence of detector geometry on image properties of the STEM for thick objects. Ultramicroscopy (1976) 0.79
Scatter correction for large non-human primate brain imaging using microPET. Phys Med Biol (2011) 0.79
Are isolated cardiomyocytes a suitable experimental model in all lines of investigation in basic cardiology? Basic Res Cardiol (1988) 0.79
The most common chromosome aberration detected by high-resolution comparative genomic hybridization in vulvar intraepithelial neoplasia is not seen in vulvar squamous cell carcinoma. Cytogenet Genome Res (2004) 0.79
Effects of myocardial contractility on microemboli production by mechanical heart valves in a bovine model. Tex Heart Inst J (2000) 0.79
Effects of sensor selection on exercise stroke volume in pacemaker dependent patients. Pacing Clin Electrophysiol (1998) 0.78
A bovine model for detecting high intensity transient signals originating from mechanical heart valves. ASAIO J (2000) 0.78
Seven years of experience with selective screening for organic acidurias. Eur J Pediatr (1984) 0.78
Immune regulation by intralymphatic immunotherapy with modular allergen translocation MAT vaccine. Allergy (2014) 0.78
[Histochemical and ultrastructural investigations on the activity of methylglyoxal (bis)-guanylhydrozan (methyl-GAG) on organ cultures of malignant tumors (author's transl)]. Arch Geschwulstforsch (1977) 0.78
N-Isovalerylalanine and N-isovalerylsarcosine: two new minor metabolites in isovaleric acidemia. Clin Chim Acta (1983) 0.78
Characterization of catecholamine uptake2 in isolated cardiac myocytes. Mol Cell Biochem (1997) 0.78
Possible involvement of alanine and pyruvate in the regulation of glucose transport in heart muscle cells. FEBS Lett (1990) 0.78
Fatty acid transfer across the myocardial capillary wall. J Mol Cell Cardiol (1993) 0.78
Cotinine excretion as a predictor of peak flow variability. Am J Respir Crit Care Med (1998) 0.77
Signals mediating stimulation of cardiomyocyte glucose transport by the alpha-adrenergic agonist phenylephrine. Am J Physiol (1996) 0.77
The effect of intravenous L-carnitine on propionic acid excretion in acute propionic acidaemia. Eur J Pediatr (1984) 0.77
Excretion of N-isovalerylglutamic acid in isovaleric acidemia. Clin Chim Acta (1981) 0.77
Synthesis of 13C-labeled chenodeoxycholic, hyodeoxycholic, and ursodeoxycholic acids for the study of bile acid metabolism in liver disease. Clin Chim Acta (1991) 0.77
Reliability measures in distorting body-image. Percept Mot Skills (1989) 0.77
4-hydroxyisovaleric acid: a new metabolite in isovaleric acidemia. Eur J Pediatr (1981) 0.76
"Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child. Eur J Pediatr (2001) 0.76
[3-hydroxy-3-methylglutaraciduria (case report of a female Turkish sisters with 3-hydroxy-3- methylglutaryl-Coenzyme A lyase deficiency]. Klin Padiatr (2000) 0.76
Development of retinal arteriolar tortuosity in previously unaffected family members. Trans Ophthalmol Soc U K (1986) 0.76
3-Hydroxyisoheptanoic acid: a new metabolite in isovaleric acidemia. Clin Chim Acta (1981) 0.76