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European Journal of Human Genetics : EJHG
|
April 21, 2001
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?
H D Bakker, M L de Sonnaville, P Vreken, et al.
Neuropediatrics
|
June 1, 1993
Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions
H M Slot, W C Overweg-Plandsoen, H D Bakker, et al.
The British Journal of Dermatology
|
October 10, 1998
Iatrogenic isolated isoleucine deficiency as the cause of an acrodermatitis enteropathica-like syndrome
A M Bosch, J H Sillevis Smitt, A H Van Gennip, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|
November 24, 1999
Eniluracil treatment completely inactivates dihydropyrimidine dehydrogenase in colorectal tumors
F Y Ahmed, S J Johnston, J Cassidy, et al.
American Journal of Human Genetics
|
June 1, 1993
X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism
H G Brunner, M R Nelen, P van Zandvoort, et al.
Pediatric Research
|
April 1, 1993
Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect
H D Bakker, H R Scholte, C Van den Bogert, et al.
The Journal of Clinical Investigation
|
February 15, 1996
Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes
J W Lenders, G Eisenhofer, N G Abeling, et al.
British Journal of Anaesthesia
|
February 29, 2008
Perioperative hyperinsulinaemic normoglycaemic clamp causes hypolipidaemia after coronary artery surgery
C J Zuurbier, F J Hoek, J van Dijk, et al.
Journal of Inherited Metabolic Disease
|
February 24, 2001
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation
P DE Lonlay, M C Nassogne, A H van Gennip, et al.
Human Genetics
|
March 10, 1999
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
A B Van Kuilenburg, P Vreken, N G Abeling, et al.
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Showing results (21-30 of 30) with videos related to
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You have reached the last page of results.
This site can display upto 30 results.
European Journal of Human Genetics : EJHG
|
April 21, 2001
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?
H D Bakker, M L de Sonnaville, P Vreken, et al.
Neuropediatrics
|
June 1, 1993
Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions
H M Slot, W C Overweg-Plandsoen, H D Bakker, et al.
The British Journal of Dermatology
|
October 10, 1998
Iatrogenic isolated isoleucine deficiency as the cause of an acrodermatitis enteropathica-like syndrome
A M Bosch, J H Sillevis Smitt, A H Van Gennip, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|
November 24, 1999
Eniluracil treatment completely inactivates dihydropyrimidine dehydrogenase in colorectal tumors
F Y Ahmed, S J Johnston, J Cassidy, et al.
American Journal of Human Genetics
|
June 1, 1993
X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism
H G Brunner, M R Nelen, P van Zandvoort, et al.
Pediatric Research
|
April 1, 1993
Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect
H D Bakker, H R Scholte, C Van den Bogert, et al.
The Journal of Clinical Investigation
|
February 15, 1996
Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes
J W Lenders, G Eisenhofer, N G Abeling, et al.
British Journal of Anaesthesia
|
February 29, 2008
Perioperative hyperinsulinaemic normoglycaemic clamp causes hypolipidaemia after coronary artery surgery
C J Zuurbier, F J Hoek, J van Dijk, et al.
Journal of Inherited Metabolic Disease
|
February 24, 2001
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation
P DE Lonlay, M C Nassogne, A H van Gennip, et al.
Human Genetics
|
March 10, 1999
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
A B Van Kuilenburg, P Vreken, N G Abeling, et al.
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of 3