Published in Hum Genet on April 01, 1998
Mutation analysis in glutaric aciduria type I. J Med Genet (2000) 1.23
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis (2004) 1.14
Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy. J Inherit Metab Dis (1999) 1.02
Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation. JIMD Rep (2014) 0.86
Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients. JIMD Rep (2015) 0.83
Glutaric aciduria type 1 as a cause of dystonic cerebral palsy. Saudi Med J (2015) 0.78
3-Sulfinopropionyl-coenzyme A (3SP-CoA) desulfinase from Advenella mimigardefordensis DPN7(T): crystal structure and function of a desulfinase with an acyl-CoA dehydrogenase fold. Acta Crystallogr D Biol Crystallogr (2015) 0.77
Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. Biomed Res Int (2016) 0.77
Clinical management of hepatocellular carcinoma. Conclusions of the Barcelona-2000 EASL conference. European Association for the Study of the Liver. J Hepatol (2001) 19.07
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med (2000) 7.61
Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling. Nat Genet (2000) 3.33
PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification. Am J Pathol (2001) 2.52
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. Nat Genet (1999) 2.23
Systematic review: glucocorticosteroids for alcoholic hepatitis--a Cochrane Hepato-Biliary Group systematic review with meta-analyses and trial sequential analyses of randomized clinical trials. Aliment Pharmacol Ther (2008) 2.16
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat Genet (1998) 2.14
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics (1996) 2.08
Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase. J Biol Chem (1991) 2.03
Less collagen production in smokers. Surgery (1998) 2.00
Prognostic value of Child-Turcotte criteria in medically treated cirrhosis. Hepatology (1984) 1.95
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet (1996) 1.89
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Pediatrics (1997) 1.86
Beneficial effect of azathioprine and prediction of prognosis in primary biliary cirrhosis. Final results of an international trial. Gastroenterology (1985) 1.86
Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features. Neurology (1987) 1.69
Clinical phenotype associated with terminal 2q37 deletion. Clin Genet (1995) 1.63
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Hum Mutat (2001) 1.60
Occurrence of hepatocellular carcinoma and decompensation in western European patients with cirrhosis type B. The EUROHEP Study Group on Hepatitis B Virus and Cirrhosis. Hepatology (1995) 1.57
Updating prognosis and therapeutic effect evaluation in cirrhosis with Cox's multiple regression model for time-dependent variables. Scand J Gastroenterol (1986) 1.57
Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency. J Pediatr (1993) 1.52
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. Nat Genet (1998) 1.51
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Hum Genet (1999) 1.48
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. Hum Mutat (1998) 1.42
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
Survival and prognostic factors in 366 patients with compensated cirrhosis type B: a multicenter study. The Investigators of the European Concerted Action on Viral Hepatitis (EUROHEP). J Hepatol (1994) 1.40
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. Hum Mol Genet (1999) 1.40
Inspiratory stridor and dysphagia in two newborn infants caused by ectopic thymus tissue. Eur J Pediatr (2008) 1.39
[Treatment of ascites in liver cirrhosis]. Ugeskr Laeger (1994) 1.38
[A comparison of 2 new rapid methods for determination of HbA1C concentration in patients with diabetes mellitus]. Ugeskr Laeger (1994) 1.38
Clinical pattern and course of disease in primary biliary cirrhosis based on an analysis of 236 patients. Gastroenterology (1980) 1.33
Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific. Clin Chem (2001) 1.32
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis (2007) 1.31
Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab (2007) 1.29
In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase. Clin Chim Acta (1982) 1.29
Cost effectiveness of adjuvant therapy for hepatocellular carcinoma during the waiting list for liver transplantation. Gut (2002) 1.29
G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV. J Biol Chem (1991) 1.27
Aspects of the natural history of gastrointestinal bleeding in cirrhosis and the effect of prednisone. Gastroenterology (1981) 1.25
Role of HPC2/ELAC2 in hereditary prostate cancer. Cancer Res (2001) 1.24
Use of a prognostic index in evaluation of liver transplantation for primary biliary cirrhosis. Transplantation (1986) 1.24
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. Am J Hum Genet (1996) 1.22
Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature. Am J Med Genet (2001) 1.21
Primary biliary cirrhosis: the prevalence of hypothyroidism and its relationship to thyroid autoantibodies and sicca syndrome. Gastroenterology (1980) 1.18
Diagnosis and management of glutaric aciduria type I. J Inherit Metab Dis (1998) 1.15
Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia. Am J Med Genet A (2003) 1.15
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene. J Med Genet (2005) 1.15
Glutaric aciduria type I: pathomechanisms of neurodegeneration. J Inherit Metab Dis (1999) 1.14
Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV. Am J Hum Genet (1991) 1.14
Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase. Pediatr Res (1996) 1.14
Molecular analysis and prenatal diagnosis of human fumarase deficiency. Mol Genet Metab (1998) 1.14
C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects. Pediatr Res (1982) 1.14
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. Pediatr Res (2000) 1.11
Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production. Matrix Biol (1998) 1.10
Lactate dehydrogenase isoenzymes in the diagnosis of human benign and malignant brain tumors. J Natl Cancer Inst (1967) 1.10
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency. Hum Genet (2001) 1.10
The painful hip: evaluation of criteria for clinical decision-making. Eur J Pediatr (1999) 1.09
Glucocorticosteroids are not effective in alcoholic hepatitis. Am J Gastroenterol (1999) 1.09
Involution of polycystic kidneys during active treatment of terminal uremia. Acta Med Scand (1975) 1.09
Studies on glutaryl-CoA dehydrogenase in leucocytes, fibroblasts and amniotic fluid cells. The normal enzyme and the mutant form in patients with glutaric aciduria. Clin Chim Acta (1978) 1.08
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. J Med Genet (2003) 1.07
A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. Am J Hum Genet (2000) 1.07
Prognostic factors in cirrhosis identified by Cox's regression model. Hepatology (1983) 1.06
Azathioprine in primary biliary cirrhosis: a preliminary report of an international trial. Gastroenterology (1980) 1.06
Propionic acidemia: neonatal versus selective metabolic screening. J Inherit Metab Dis (2011) 1.05
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2. Am J Med Genet (1998) 1.05
Frequency of the delta F508 mutation on cystic fibrosis chromosomes in Denmark. Hum Genet (1990) 1.05
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. J Med Genet (2010) 1.05
Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis (1995) 1.05
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. Am J Hum Genet (2000) 1.04
ETHE1 mutations are specific to ethylmalonic encephalopathy. J Med Genet (2005) 1.04
Osteoporosis-pseudoglioma or osteogenesis imperfecta? Clin Genet (1986) 1.04
Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. Eur J Pediatr (1997) 1.03
A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia. Am J Med Genet (1996) 1.03
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. Clin Genet (2005) 1.03
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. Clin Genet (2002) 1.03
High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase. Am J Hum Genet (2000) 1.02
Determination of bone markers in pycnodysostosis: effects of cathepsin K deficiency on bone matrix degradation. J Bone Miner Res (1999) 1.02
A HaeIII RFLP in COL1A1. Nucleic Acids Res (1990) 1.02
Ehlers-Danlos syndrome type VII: clinical features and molecular defects. J Bone Joint Surg Am (1999) 1.01
Blood-brain barrier transport of amino acids in healthy controls and in patients with phenylketonuria. J Inherit Metab Dis (1995) 1.00
Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts. Hum Genet (1993) 1.00
Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity. Clin Genet (2010) 0.99
Double blind controlled trial of d-penicillamine in patients with primary biliary cirrhosis. Gut (1985) 0.98
Influence of acute and chronic alcohol intake on the clinical course and outcome in acetaminophen overdose. Aliment Pharmacol Ther (2002) 0.97
Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter. J Biol Chem (1996) 0.97
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. J Med Genet (2009) 0.97
Glutaric aciduria in progressive choreo-athetosis. Clin Genet (1978) 0.96
Ursodeoxycholic acid for primary biliary cirrhosis. Cochrane Database Syst Rev (2002) 0.96
Plasma osteopontin as a biomarker of prostate cancer aggression: relationship to risk category and treatment response. Br J Cancer (2012) 0.96
[Accidents due to violence in Arhus over the period of a year. I. Review and extent of violence]. Ugeskr Laeger (1983) 0.96