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Orphanet Journal of Rare Diseases
|
March 12, 2011
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
Caroline Sevin, Sacha Ferdinandusse, Hans R Waterham, et al.
Advances in Experimental Medicine and Biology
|
January 8, 2021
Fatty Acid Oxidation in Peroxisomes: Enzymology, Metabolic Crosstalk with Other Organelles and Peroxisomal Disorders
Ronald J A Wanders, Frédéric M Vaz, Hans R Waterham, et al.
Nederlands Tijdschrift Voor Geneeskunde
|
March 6, 2014
[Hereditary fructose intolerance]
Lynne Rumping, Hans R Waterham, Irene Kok, et al.
The Journal of Biological Chemistry
|
December 13, 2002
Regulation of isoprenoid/cholesterol biosynthesis in cells from mevalonate kinase-deficient patients
Sander M Houten, Marit S Schneiders, Ronald J A Wanders, et al.
Physiological Reviews
|
August 11, 2022
The physiological functions of human peroxisomes
Ronald J A Wanders, Myriam Baes, Daniela Ribeiro, et al.
Molecular Genetics and Metabolism
|
September 9, 2005
Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency
Stanley H Korman, Hans R Waterham, Alisa Gutman, et al.
Indian Journal of Pediatrics
|
September 24, 2008
Primary hyperoxaluria type 1 with a novel mutation
Sidharth Kumar Sethi, Hans R Waterham, Sonika Sharma, et al.
Clinical Rheumatology
|
May 29, 2008
Hyperimmunoglobulinemia D and periodic fever syndrome; treatment with etanercept and follow-up
Rezan Topaloğlu, Nuray Aktay Ayaz, Hans R Waterham, et al.
Journal of Inherited Metabolic Disease
|
November 16, 2024
A Dutch translational knowledge agenda for inherited metabolic diseases
Hans R Waterham, Ronald J A Wanders, Ron A Wevers, et al.
European Journal of Pediatrics
|
January 9, 2007
A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings
Didem Aliefendioğlu, Ali Dursun, Turgay Coşkun, et al.
Page
of 23
Search research articles
Search
Showing results (31-40 of 223) with videos related to
Sort By:
Page
of 23
Orphanet Journal of Rare Diseases
|
March 12, 2011
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
Caroline Sevin, Sacha Ferdinandusse, Hans R Waterham, et al.
Advances in Experimental Medicine and Biology
|
January 8, 2021
Fatty Acid Oxidation in Peroxisomes: Enzymology, Metabolic Crosstalk with Other Organelles and Peroxisomal Disorders
Ronald J A Wanders, Frédéric M Vaz, Hans R Waterham, et al.
Nederlands Tijdschrift Voor Geneeskunde
|
March 6, 2014
[Hereditary fructose intolerance]
Lynne Rumping, Hans R Waterham, Irene Kok, et al.
The Journal of Biological Chemistry
|
December 13, 2002
Regulation of isoprenoid/cholesterol biosynthesis in cells from mevalonate kinase-deficient patients
Sander M Houten, Marit S Schneiders, Ronald J A Wanders, et al.
Physiological Reviews
|
August 11, 2022
The physiological functions of human peroxisomes
Ronald J A Wanders, Myriam Baes, Daniela Ribeiro, et al.
Molecular Genetics and Metabolism
|
September 9, 2005
Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency
Stanley H Korman, Hans R Waterham, Alisa Gutman, et al.
Indian Journal of Pediatrics
|
September 24, 2008
Primary hyperoxaluria type 1 with a novel mutation
Sidharth Kumar Sethi, Hans R Waterham, Sonika Sharma, et al.
Clinical Rheumatology
|
May 29, 2008
Hyperimmunoglobulinemia D and periodic fever syndrome; treatment with etanercept and follow-up
Rezan Topaloğlu, Nuray Aktay Ayaz, Hans R Waterham, et al.
Journal of Inherited Metabolic Disease
|
November 16, 2024
A Dutch translational knowledge agenda for inherited metabolic diseases
Hans R Waterham, Ronald J A Wanders, Ron A Wevers, et al.
European Journal of Pediatrics
|
January 9, 2007
A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings
Didem Aliefendioğlu, Ali Dursun, Turgay Coşkun, et al.
Page
of 23