R B H Schutgens


Ontology type: schema:Person     


Person Info

NAME

R B H

SURNAME

Schutgens

Publications in SciGraph latest 50 shown

  • 2002-12 CSF markers related to pathogenetic mechanisms in Alzheimer's disease in JOURNAL OF NEURAL TRANSMISSION
  • 2000-01 2-Methylbutyryl-CoA dehydrogenase (2-MBCDase) deficiency in GENETICS IN MEDICINE
  • 1998-06 L-2-Hydroxyglutaric aciduria and lactic acidosis in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1997-11 Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease) in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1997-09 A new peroxisomal β-oxidation disorder in twin neonates: Defective oxidation of both cerotic and pristanic acids in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1997-08 Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1996-12 Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings in EUROPEAN JOURNAL OF PEDIATRICS
  • 1996-03 X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): Respiratory-chain abnormalities in cultured fibroblasts in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1995 Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients in DIAGNOSIS OF HUMAN PEROXISOMAL DISORDERS
  • 1995-01 Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1995-01 Measurement of peroxisomal fatty acid β-oxidation in cultured human skin fibroblasts in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1995 Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells in DIAGNOSIS OF HUMAN PEROXISOMAL DISORDERS
  • 1995 Measurement of peroxisomal fatty acid β-oxidation in cultured human skin fibroblasts in DIAGNOSIS OF HUMAN PEROXISOMAL DISORDERS
  • 1995-01 Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1994-11 Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency in EUROPEAN JOURNAL OF PEDIATRICS
  • 1994-09 Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1994-09 Peroxisomal functions in Mulibrey nanism in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1994-05 A new variant of Zellweger syndrome with normal peroxisomal functions in cultured fibroblasts in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1994-05 Human alkyldihydroxyacetonephosphate synthase deficiency: A new peroxisomal disorder in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1994-01 Chondrodysplasia punctata with a mild clinical course in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1994-01 Clinical and biochemical characteristics of peroxisomal disorders: an update in EUROPEAN JOURNAL OF PEDIATRICS
  • 1993-11 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency: absence of clinical symptoms due to a self-imposed dietary fat and protein restriction in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1993-07 l-2-Hydroxyglutaric acidaemia: Clinical and biochemical findings in 12 patients and preliminary report onl-2-hydroxyacid dehydrogenase in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1993-04 Isolated defect of peroxisomal β-oxidation in a 16-year-old patient in EUROPEAN JOURNAL OF PEDIATRICS
  • 1992-11 Rhizomelic chondrodysplasia punctata — A new clinical variant in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1992-07 X-linked adrenoleukodystrophy: Biochemical diagnosis and enzyme defect in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1992-05 Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: A peroxisomal entity amenable to plasmapheresis in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1992-05 Zellweger-like phenotype in two siblings: A defect in peroxisomal β-oxidation with elevated very long-chain fatty acids but normal bile acids in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1992-05 Bifunctional enzyme deficiency: Identification of a new type of peroxisomal disorder in a patient with an impairment in peroxisomal β-oxidation of unknown aetiology by means of complementation analysis in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1992-05 Human dihydroxyacetonephosphate acyltransferase deficiency: A new peroxisomal disorder in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1992-02 Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation in EUROPEAN JOURNAL OF PEDIATRICS
  • 1992-02 Clinical recognition of patients affected by a peroxisomal disorder: A retrospective study in 40 patients in EUROPEAN JOURNAL OF PEDIATRICS
  • 1992-01 Zellweger syndrome in a preterm, small for gestational age infant in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1991-12 134 PROGRESSIVE ATAXIA AND MENTAL RETARDATION ASSOCIATED WITH LEUCODYSTROPHY IN 4 PATIENTS WITH L-2-HYDROXY-GLUTARIC ACIDURIA in PEDIATRIC RESEARCH
  • 1991-11 Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1991-11 Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data in VIRCHOWS ARCHIV A PATHOLOGICAL ANATOMY AND HISTOPATHOLOGY
  • 1991-05 Pristanic acid and phytanic acid in plasma from patients with a single peroxisomal enzyme deficiency in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1991-05 Bile acids in amniotic fluid: Promising metabolites for the prenatal diagnosis of peroxisomal disorders in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1991-05 A new type of chondrodysplasia punctata associated with peroxisomal dysfunction in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1991-05 Di- and trihydroxycholestanaemia in twin sisters in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1991-03 Acyl-CoA oxidase, peroxisomal thiolase and dihydroxyacetone phosphate acyltransferase: Aberrant subcellular localization in Zellweger syndrome in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1991 Infantile Refsumsche Erkrankung — Eine peroxisomale Störung mit charakteristischem klinischen Bild in AKTUELLE NEUROPÄDIATRIE 1990
  • 1990-11 Severe methaemoglobinaemia due to para-chloraniline intoxication in premature neonates in EUROPEAN JOURNAL OF PEDIATRICS
  • 1990-11 Excessive urinary oxalate excretion after combined renal and hepatic transplantation for correction of hyperoxaluria type 1 in EUROPEAN JOURNAL OF PEDIATRICS
  • 1990-07 Peroxisomal β-oxidation defect with detectable peroxisomes: A case with neonatal onset and progressive course in EUROPEAN JOURNAL OF PEDIATRICS
  • 1990-05 Di- and trihydroxycholestanoic acidaemia with hepatic failure in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1990-05 First prenatal diagnosis of acyl-CoA oxidase deficiency in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1990-05 A bifunctional protein with deficient enzymic activity: Identification of a new peroxisomal disorder using novel methods to measure the peroxisomal β-oxidation enzyme activities in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1990-05 Antenatal diagnosis of rhizomelic chondrodysplasia punctata in the second trimester in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1990-05 A new peroxisomal disorder: Di- and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency in JOURNAL OF INHERITED METABOLIC DISEASE
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