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The Journal of Pediatrics
|
May 1, 1988
de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency
H Ogier, A Lombes, H R Scholte, et al.
Annals of Neurology
|
August 26, 1998
Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency
T J de Koning, M Duran, L Dorland, et al.
Pediatric Research
|
November 1, 1992
In vivo study of phytanic acid alpha-oxidation in classic Refsum's disease and chondrodysplasia punctata
H J ten Brink, D S Schor, R M Kok, et al.
Journal of Medical Genetics
|
August 27, 1998
Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency
D R Sjarif, R J Sinke, M Duran, et al.
Journal of Inherited Metabolic Disease
|
October 8, 1998
Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome
T J de Koning, M Toet, L Dorland, et al.
Journal of Inherited Metabolic Disease
|
August 1, 1998
Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)
K M Gibson, L Sweetman, V Kozich, et al.
Journal of Inherited Metabolic Disease
|
August 1, 1997
Abnormal glutathione conjugation in patients with tyrosinaemia type I
T M Mulders, D J Bergman, B T Poll-The, et al.
Prenatal Diagnosis
|
March 4, 2000
Prenatal diagnosis in adenylosuccinate lyase deficiency
S Marie, J W Flipsen, M Duran, et al.
Journal of Medical Genetics
|
December 1, 1998
Coexistence of Gaucher disease type 1 and Joubert syndrome
A van Royen-Kerkhof, B T Poll-The, W J Kleijer, et al.
American Journal of Medical Genetics
|
March 9, 1999
Different phenotypic expression in relatives with fabry disease caused by a W226X mutation
I E Knol, M G Ausems, D Lindhout, et al.
Page
of 13
Search research articles
Search
Showing results (71-80 of 127) with videos related to
Sort By:
Page
of 13
The Journal of Pediatrics
|
May 1, 1988
de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency
H Ogier, A Lombes, H R Scholte, et al.
Annals of Neurology
|
August 26, 1998
Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency
T J de Koning, M Duran, L Dorland, et al.
Pediatric Research
|
November 1, 1992
In vivo study of phytanic acid alpha-oxidation in classic Refsum's disease and chondrodysplasia punctata
H J ten Brink, D S Schor, R M Kok, et al.
Journal of Medical Genetics
|
August 27, 1998
Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency
D R Sjarif, R J Sinke, M Duran, et al.
Journal of Inherited Metabolic Disease
|
October 8, 1998
Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome
T J de Koning, M Toet, L Dorland, et al.
Journal of Inherited Metabolic Disease
|
August 1, 1998
Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)
K M Gibson, L Sweetman, V Kozich, et al.
Journal of Inherited Metabolic Disease
|
August 1, 1997
Abnormal glutathione conjugation in patients with tyrosinaemia type I
T M Mulders, D J Bergman, B T Poll-The, et al.
Prenatal Diagnosis
|
March 4, 2000
Prenatal diagnosis in adenylosuccinate lyase deficiency
S Marie, J W Flipsen, M Duran, et al.
Journal of Medical Genetics
|
December 1, 1998
Coexistence of Gaucher disease type 1 and Joubert syndrome
A van Royen-Kerkhof, B T Poll-The, W J Kleijer, et al.
American Journal of Medical Genetics
|
March 9, 1999
Different phenotypic expression in relatives with fabry disease caused by a W226X mutation
I E Knol, M G Ausems, D Lindhout, et al.
Page
of 13