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- 2014
-
Mark
Serine synthesis disorders
2014) p.123-131(
- Chapter in Book/Report/Conference proceeding › Book chapter
-
Mark
Assessment of speech in early-onset ataxia : A pilot study
(
- Contribution to journal › Article
-
Mark
Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency
(
- Contribution to journal › Article
-
Mark
Periodic fever in MVK deficiency : A patient initially diagnosed with incomplete Kawasaki disease
(
- Contribution to journal › Article
-
Mark
Ramsay hunt syndrome : Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation
(
- Contribution to journal › Article
-
Mark
Impaired cognitive functioning in patients with tyrosinemia type i receiving nitisinone
(
- Contribution to journal › Article
- 2013
-
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
-
Mark
Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria
(
- Contribution to journal › Article
-
Mark
D-amino acid aberrations in cerebrospinal fluid and plasma of smokers
(
- Contribution to journal › Article