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Journal of Inherited Metabolic Disease
|
August 7, 2001
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates
L J Spaapen, J A Bakker, C Velter, et al.
Archives of Biochemistry and Biophysics
|
January 24, 1998
A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients
C H Casale, N Casals, J Pié, et al.
Stroke
|
June 1, 1996
Evaluation of the presence of premature atherosclerosis in adults with heterozygosity for cystathionine-beta-synthase deficiency
H W de Valk, M K van Eeden, J D Banga, et al.
Biochimica Et Biophysica Acta
|
July 17, 2012
Patient-derived fibroblasts indicate oxidative stress status and may justify antioxidant therapy in OXPHOS disorders
A M Voets, P J Lindsey, S J Vanherle, et al.
Journal of Inherited Metabolic Disease
|
July 1, 1997
Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins
J Jaeken, J Artigas, R Barone, et al.
Journal of Neurology
|
February 22, 2012
Incidence of acquired demyelinating syndromes of the CNS in Dutch children: a nationwide study
I A Ketelslegers, C E Catsman-Berrevoets, R F Neuteboom, et al.
Journal of Neurology
|
March 24, 2018
Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study
C L de Mol, Y Y M Wong, E D van Pelt, et al.
Page
of 13
Search research articles
Search
Showing results (121-130 of 127) with videos related to
Sort By:
Page
of 13
You have reached the last page of results.
This site can display upto 127 results.
Journal of Inherited Metabolic Disease
|
August 7, 2001
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates
L J Spaapen, J A Bakker, C Velter, et al.
Archives of Biochemistry and Biophysics
|
January 24, 1998
A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients
C H Casale, N Casals, J Pié, et al.
Stroke
|
June 1, 1996
Evaluation of the presence of premature atherosclerosis in adults with heterozygosity for cystathionine-beta-synthase deficiency
H W de Valk, M K van Eeden, J D Banga, et al.
Biochimica Et Biophysica Acta
|
July 17, 2012
Patient-derived fibroblasts indicate oxidative stress status and may justify antioxidant therapy in OXPHOS disorders
A M Voets, P J Lindsey, S J Vanherle, et al.
Journal of Inherited Metabolic Disease
|
July 1, 1997
Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins
J Jaeken, J Artigas, R Barone, et al.
Journal of Neurology
|
February 22, 2012
Incidence of acquired demyelinating syndromes of the CNS in Dutch children: a nationwide study
I A Ketelslegers, C E Catsman-Berrevoets, R F Neuteboom, et al.
Journal of Neurology
|
March 24, 2018
Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study
C L de Mol, Y Y M Wong, E D van Pelt, et al.
Page
of 13