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                             17 results found
no title author magazine year volume issue page(s) type
1 ALG11-CDG: Three novel mutations and further characterization of the phenotype Regal, L.
 2015
 2 C p. 16-19
4 p.
 article
2 Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease Cocanougher, Benjamin
 2015
 2 C p. 61-64
4 p.
 article
3 Corrective effects of hepatotoxicity by hepatic Dyrk1a gene delivery in mice with intermediate hyperhomocysteinemia Latour, Alizée
 2015
 2 C p. 51-60
10 p.
 article
4 Effects of naturally occurring missense mutations and G525V in the hydratase domain of human d-bifunctional protein on hydratase activity Tsuchida, Shirou
 2015
 2 C p. 41-45
5 p.
 article
5 Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype Sperb-Ludwig, F.
 2015
 2 C p. 34-37
4 p.
 article
6 First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children Senanayake, Danika Nadeen
 2015
 2 C p. 81-84
4 p.
 article
7 Hyperammonemic crisis in a child with ATP synthase deficiency caused by mtDNA mutation m.8851T>C Dvorakova, Veronika
 2015
 2 C p. 46-
1 p.
 article
8 Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations Ritelli, Marco
 2015
 2 C p. 1-15
15 p.
 article
9 Long-term follow-up of post hematopoietic stem cell transplantation for Hurler syndrome: Clinical, biochemical, and pathological improvements Yasuda, Eriko
 2015
 2 C p. 65-76
12 p.
 article
10 Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature Carpentieri, David
 2015
 2 C p. 47-50
4 p.
 article
11 Obstetric risk in patients with myopathy due to MATR3 mutations Mueller, T.
 2015
 2 C p. 32-33
2 p.
 article
12 Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis Habarou, F.
 2015
 2 C p. 25-31
7 p.
 article
13 Serum β 2-microglobulin is frequently elevated in type 1 Gaucher patients Koppe, Tiago
 2015
 2 C p. 38-40
3 p.
 article
14 Stormorken syndrome or York platelet syndrome: A clinician's dilemma Singh, Amrathlal Rabbind
 2015
 2 C p. 80-
1 p.
 article
15 Successful reduction of high-sustained anti-idursulfase antibody titers by immune modulation therapy in a patient with severe mucopolysaccharidosis type II Kim, Katherine H.
 2015
 2 C p. 20-24
5 p.
 article
16 Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran Setoodeh, Aria
 2015
 2 C p. 77-79
3 p.
 article
17 When should social service referral be considered in phenylketonuria? van Rijn, Margreet
 2015
 2 C p. 85-88
4 p.
 article
                             17 results found
 
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