Rja Wanders


Ontology type: schema:Person     


Person Info

NAME

Rja

SURNAME

Wanders

Publications in SciGraph latest 50 shown

  • 2016-10 Polyunsaturated fatty acid status in treated isovaleric acidemia patients in EUROPEAN JOURNAL OF CLINICAL NUTRITION
  • 2016 Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder in JIMD REPORTS, VOLUME 34
  • 2015 Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy in JIMD REPORTS, VOLUME 22
  • 2013-02 Analysis of glycosaminoglycan storage in mucopolysaccharidosis patients on enzyme replacement therapy in TIJDSCHRIFT VOOR KINDERGENEESKUNDE
  • 2013-02 Residual Enzyme Activity Determines Phenotypic Severity In Mucopolysaccharidosis Type I in TIJDSCHRIFT VOOR KINDERGENEESKUNDE
  • 2012-11 Clinical variability of isovaleric acidemia in a genetically homogeneous population in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2011-09 Preadipocytes of type 2 diabetes subjects display an intrinsic gene expression profile of decreased differentiation capacity in INTERNATIONAL JOURNAL OF OBESITY
  • 2009-12 Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2009-04 Pyruvate dehydrogenase kinase 4 expression is synergistically induced by AMP-activated protein kinase and fatty acids in CELLULAR AND MOLECULAR LIFE SCIENCES
  • 2009 Bile acid abnormalities in peroxisomal disorders in BILE ACID BIOLOGY AND THERAPEUTIC ACTIONS
  • 2008-04 Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: A review in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2008-02 Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2007-12 Phytanic acid impairs mitochondrial respiration through protonophoric action in CELLULAR AND MOLECULAR LIFE SCIENCES
  • 2006-08 Phytanic acid: production from phytol, its breakdown and role in human disease in CELLULAR AND MOLECULAR LIFE SCIENCES
  • 2006-07 Farnesylation of Pex19p is not essential for peroxisome biogenesis in yeast and mammalian cells in CELLULAR AND MOLECULAR LIFE SCIENCES
  • 2005-12 A novel assay for the prenatal diagnosis of Sjögren–Larsson syndrome in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2005-07 Defekt der langkettigen 3-Hydroxy-Acyl-CoA-Dehydrogenase—LCHAD-Defekt in MONATSSCHRIFT KINDERHEILKUNDE
  • 2005 Peroxisomes and Peroxisomal Disorders in MAGNETIC RESONANCE OF MYELINATION AND MYELIN DISORDERS
  • 2004-10 Een pasgeborene met een zeldzame oorzaak van cholestase: een peroxisomale ziekte in TIJDSCHRIFT VOOR KINDERGENEESKUNDE
  • 2004-08 Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency in ACTA NEUROPATHOLOGICA
  • 2004-03 Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2003-10 Galactosemie in Nederland, opnieuw beschouwd in TIJDSCHRIFT VOOR KINDERGENEESKUNDE
  • 2003-09 Fatty acid metabolism in Saccharomyces cerevisiae in CELLULAR AND MOLECULAR LIFE SCIENCES
  • 2003-09 Stereoselective analysis of 2-hydroxysebacic acid in urine of patients with Zellweger syndrome and of premature infants fed withmedium-chain triglycerides in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2003-07 3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2003-07 Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2002-11 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2002-09 Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2002-04 Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia in HUMAN GENETICS
  • 2002 Functions and Dysfunctions of Peroxisomes in Fatty Acid α- and β-Oxidation in CURRENT VIEWS OF FATTY ACID OXIDATION AND KETOGENESIS
  • 2002 Phytanoyl-CoA Hydroxylase Deficiency in CURRENT VIEWS OF FATTY ACID OXIDATION AND KETOGENESIS
  • 2002 Identification of a Missense Mutation in a Patient with Lethal Carnitine Acyl-Carnitine Carrier Deficiency in CURRENT VIEWS OF FATTY ACID OXIDATION AND KETOGENESIS
  • 2002 Rapid Diagnosis of Organic Acidemias and Fatty-acid Oxidation Defects by Quantitative Electrospray Tandem-MS Acyl-Carnitine Analysis in Plasma in CURRENT VIEWS OF FATTY ACID OXIDATION AND KETOGENESIS
  • 2002 D-Hydroxyacyl-CoA Dehydrogenase Deficiency in CURRENT VIEWS OF FATTY ACID OXIDATION AND KETOGENESIS
  • 2001-06 Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2001-02 A new case of succinyl-CoA:acetoacetate transferase deficiency: Favourable course despite very low residual activity in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2000-06 Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: High frequency of 3 mutations in the mevalonate kinase gene in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2000-06 Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2000-06 Phytanic acid α-oxidation in man: Identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndrome in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2000-06 Analysis of plasmenylethanolamines using electrospray tandem mass spectrometry and its application in screening for peroxisomal disorders in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2000-05 Hepatic peroxisomes in isolated hyperpipecolic acidaemia: evidence supporting its classification as a single peroxisomal enzyme deficiency in VIRCHOWS ARCHIV
  • 2000-02 Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy in NATURE GENETICS
  • 2000-01 Hepatic Carnitine Palmitoyltransferase I Deficiency Presenting as Maternal Illness in Pregnancy in PEDIATRIC RESEARCH
  • 1999-10 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Neonatal manifestation at the first day of life presenting with tachypnoea in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1999-09 Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1α gene in EUROPEAN JOURNAL OF PEDIATRICS
  • 1999-08 Spontaneous pregnancy in a patient with classical galactosaemia in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1999-06 X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060) in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1999-05 DNA-based prenatal diagnosis for very-long- chain acyl-CoA dehydrogenase deficiency in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1999-05 Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: Application for selective screening of peroxisomal disorders in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1999-05 Disorders of peroxisome biogenesis: Complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency) in JOURNAL OF INHERITED METABOLIC DISEASE
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