1 – 10 of 10
- show: 10
- |
- sort: year (new to old)
Close
Embed this list
<iframe src=" "
width=" "
height=" "
allowtransparency="true"
frameborder="0">
</iframe>
- 2019
-
Mark
Identification of human D lactate dehydrogenase deficiency
(
- Contribution to journal › Article
- 2013
-
Mark
Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria
(
- Contribution to journal › Article
-
Mark
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency
(
- Chapter in Book/Report/Conference proceeding › Book chapter
- 2010
-
Mark
Fasting and Fat-Loading Tests Provide Pathophysiological Insight into Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
(
- Contribution to journal › Article
- 2003
-
Mark
L-serine in disease and development
(
- Contribution to journal › Scientific review
- 2000
-
Mark
Neurotransmitters in 3-phosphoglycerate dehydrogenase deficiency
(
- Contribution to journal › Letter
-
Mark
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency - A neurometabolic disorder associated with reduced L-serine biosynthesis
(
- Contribution to journal › Article
- 1999
-
Mark
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
(
- Contribution to journal › Article
- 1998
-
Mark
Peroxisomal disorders
(
- Contribution to journal › Scientific review
-
Mark
Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency
(
- Contribution to journal › Article