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- 2023
-
Mark
The Swedish COG6-CDG experience and a comprehensive literature review
(
- Contribution to journal › Article
- 2018
-
Mark
DPAGT1 deficiency with encephalopathy (DPAGT1-CDG) : Clinical and genetic description of 11 new patients
(
- Chapter in Book/Report/Conference proceeding › Book chapter
- 2015
-
Mark
Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated Donor.
(
- Contribution to journal › Article
- 2013
-
Mark
A novel SLC6A8 mutation in a large family with X-linked intellectual disability: clinical and proton magnetic resonance spectroscopy data of both hemizygous males and heterozygous females
(
- Chapter in Book/Report/Conference proceeding › Book chapter
-
Mark
High incidence of symptomatic hyperammonemia in children with acute lymphoblastic leukemia receiving pegylated asparaginase
(
- Chapter in Book/Report/Conference proceeding › Book chapter
-
Mark
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency
(
- Chapter in Book/Report/Conference proceeding › Book chapter
- 2012
-
Mark
D-serine influences synaptogenesis in a P19 cell model
(
- Chapter in Book/Report/Conference proceeding › Book chapter
-
Mark
Neurodegeneration with brain iron accumulation on MRI : An adult case of α-mannosidosis
(
- Chapter in Book/Report/Conference proceeding › Book chapter
-
Mark
The proline/citrulline ratio as a biomarker for OAT deficiency in early infancy
(
- Chapter in Book/Report/Conference proceeding › Book chapter