What is he best known for?
The fields of study he is best known for:
- Enzyme
- Gene
- Internal medicine
His primary scientific interests are in Biochemistry, Peroxisome, Internal medicine, Endocrinology and Peroxisomal disorder.
Many of his studies on Biochemistry apply to Molecular biology as well.
His research investigates the connection with Peroxisome and areas like Fatty acid which intersect with concerns in Pristanic acid, Glyoxysome and Metabolism.
His work on Mevalonic aciduria as part of general Internal medicine study is frequently connected to Smith–Lemli–Opitz syndrome, therefore bridging the gap between diverse disciplines of science and establishing a new relationship between them.
He has researched Endocrinology in several fields, including Familial Mediterranean fever, 7-Dehydrocholesterol reductase and Docosapentaenoic acid.
His Peroxisomal disorder study integrates concerns from other disciplines, such as Pathology, Chromatography and Refsum disease, Phytanic acid.
His most cited work include:
- Quantification of the contribution of various steps to the control of mitochondrial respiration. (523 citations)
- Peroxisomal disorders: a newly recognised group of genetic diseases. (276 citations)
- The membrane of peroxisomes in Saccharomyces cerevisiae is impermeable to NAD(H) and acetyl-CoA under in vivo conditions. (273 citations)
What are the main themes of his work throughout his whole career to date?
Biochemistry, Peroxisome, Internal medicine, Endocrinology and Peroxisomal disorder are his primary areas of study.
His Enzyme, Fatty acid, Mitochondrion, Pristanic acid and Alpha oxidation investigations are all subjects of Biochemistry research.
His research on Peroxisome often connects related topics like Pipecolic acid.
His work carried out in the field of Internal medicine brings together such families of science as Mutation and Pathology.
His study ties his expertise on Human genetics together with the subject of Endocrinology.
His study of Rhizomelic chondrodysplasia punctata is a part of Peroxisomal disorder.
He most often published in these fields:
- Biochemistry (53.87%)
- Peroxisome (40.80%)
- Internal medicine (39.47%)
What were the highlights of his more recent work (between 2002-2016)?
- Biochemistry (53.87%)
- Internal medicine (39.47%)
- Endocrinology (38.93%)
In recent papers he was focusing on the following fields of study:
His scientific interests lie mostly in Biochemistry, Internal medicine, Endocrinology, Peroxisome and Carnitine.
All of his Biochemistry and Fatty acid, Phytanic acid, Refsum disease, Mitochondrion and Beta oxidation investigations are sub-components of the entire Biochemistry study.
His studies deal with areas such as Dehydrogenase, Genotype, Mutation and Pathology as well as Internal medicine.
His Endocrinology research includes themes of Enzyme assay, Enzyme, Newborn screening, Myopathy and Acyl CoA dehydrogenase.
His study in Peroxisome concentrates on Pristanic acid and Peroxisomal disorder.
The study incorporates disciplines such as Transporter and Primary Carnitine Deficiency in addition to Carnitine.
Between 2002 and 2016, his most popular works were:
- Mutations in the Gene Encoding Peroxisomal Sterol Carrier Protein X (SCPx) Cause Leukencephalopathy with Dystonia and Motor Neuropathy (101 citations)
- Clinical features of galactokinase deficiency:A review of the literature (101 citations)
- Fatty acid metabolism in Saccharomyces cerevisiae. (89 citations)
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