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- 2013
-
Mark
Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes
(
- Contribution to journal › Article
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Mark
Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria
(
- Contribution to journal › Article
-
Mark
An update on serine deficiency disorders
(
- Contribution to journal › Article
- 2011
-
Mark
Complex III staining in blue native polyacrylamide gels
(
- Contribution to journal › Article
-
Mark
Orthopaedic management of Hurler's disease after hematopoietic stem cell transplantation : A systematic review
(
- Contribution to journal › Scientific review
-
Mark
Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency
(
- Contribution to journal › Article
- 2010
-
Mark
Whole body composition analysis by the BodPod air-displacement plethysmography method in children with Phenylketonuria shows a higher body fat percentage
(
- Contribution to journal › Article
-
Mark
Fatal cerebral edema associated with serine deficiency in CSF
(
- Contribution to journal › Article
- 2009
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Mark
In response to van Spronsen et al
(
- Contribution to journal › Letter
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Mark
Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU
(
- Contribution to journal › Article