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Journal of Inherited Metabolic Disease
|
August 2, 2003
X-linked creatine transporter defect: an overview
G S Salomons, S J M van Dooren, N M Verhoeven, et al.
Molecular Genetics and Metabolism
|
October 4, 2012
Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease
S Mercimek-Mahmutoglu, G Sinclair, S J M van Dooren, et al.
Clinical Genetics
|
March 7, 2014
Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1
J M van de Kamp, A Errami, M Howidi, et al.
Neurology
|
March 1, 2006
Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord
M S van der Knaap, V Ramesh, R Schiffmann, et al.
Clinical Genetics
|
June 10, 2010
Clinical features and X-inactivation in females heterozygous for creatine transporter defect
J M van de Kamp, G M S Mancini, P J W Pouwels, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 5) with videos related to
Sort By:
Page
of 1
Journal of Inherited Metabolic Disease
|
August 2, 2003
X-linked creatine transporter defect: an overview
G S Salomons, S J M van Dooren, N M Verhoeven, et al.
Molecular Genetics and Metabolism
|
October 4, 2012
Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease
S Mercimek-Mahmutoglu, G Sinclair, S J M van Dooren, et al.
Clinical Genetics
|
March 7, 2014
Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1
J M van de Kamp, A Errami, M Howidi, et al.
Neurology
|
March 1, 2006
Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord
M S van der Knaap, V Ramesh, R Schiffmann, et al.
Clinical Genetics
|
June 10, 2010
Clinical features and X-inactivation in females heterozygous for creatine transporter defect
J M van de Kamp, G M S Mancini, P J W Pouwels, et al.
Page
of 1