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                             27 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 ALG9-CDG: New clinical case and review of the literature Davis, Kellie
 2017
 13 C p. 55-63
9 p.
 artikel
2 A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype Bonati, Maria Teresa
 2017
 13 C p. 14-17
4 p.
 artikel
3 A pilot study on using rapamycin-carrying synthetic vaccine particles (SVP) in conjunction with enzyme replacement therapy to induce immune tolerance in Pompe disease Lim, Han-Hyuk
 2017
 13 C p. 18-22
5 p.
 artikel
4 Comments on: Kocova M, Anastasovska V. Comments on ‘Newborn screening in southeastern Europe’ published in Molecular Genetics and Metabolism, 2014 Sept–Oct;113(1–2):42–45 by U. Groselj, M. ZerjavTansek, A. Smon, N. Angelkova, D. Anton, I. Baric, M. Djordjevic, L. Grimci, M. Ivanova, A. Kadam, V. Mulliqi Kotori, H. Maksic, O. Marginean, O. Margineanu, O. Milijanovic, F. Moldovanu, M. Muresan, S. Murko, M. Nanu, B. Repic Lampert, M. Samardzic, V. Sarnavka, A. Savov, M. Stojiljkovic, B. Suzic, R. Tincheva, H. Tahirovic, A. Toromanovic, N. Usurela, T. Battelino. Mol Genet Metab Rep. 2015 Nov 12;5:110. doi: 10.1016/j.ymgmr.2015.11.003. eCollection 2015 Dec. Journal: Molecular Genetics and Metabolism Reports Gucev, Z.
 2017
 13 C p. 13-
1 p.
 artikel
5 Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia Muriello, Michael J.
 2017
 13 C p. 9-12
4 p.
 artikel
6 Correspondence to: “Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency” and “A novel NDUFA1 mutation leads to progressive mitochondrial complex I- specific neurodegenerative disease” Xu, Jack Junchi
 2017
 13 C p. 30-
1 p.
 artikel
7 Costs for mitochondrial medicine will remain high as long as mitochondrial disorders are misdiagnosed Finsterer, Josef
 2017
 13 C p. 41-
1 p.
 artikel
8 Dietary management of maternal phenylketonuria with glycomacropeptide and amino acids supplements: A case report Pinto, A.
 2017
 13 C p. 105-110
6 p.
 artikel
9 Dietary practices in propionic acidemia: A European survey Daly, A.
 2017
 13 C p. 83-89
7 p.
 artikel
10 Elosulfase alfa enzyme replacement therapy attenuates disease progression in a non-ambulatory Japanese patient with Morquio A syndrome (case report) Hiramatsu, Misako
 2017
 13 C p. 76-79
4 p.
 artikel
11 Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up Furujo, Mahoko
 2017
 13 C p. 69-75
7 p.
 artikel
12 First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive functioning in children with PKU de la Parra, Alicia
 2017
 13 C p. 90-94
5 p.
 artikel
13 Limitations of galactose therapy in phosphoglucomutase 1 deficiency Nolting, Kristine
 2017
 13 C p. 33-40
8 p.
 artikel
14 Lipid profile in adult patients with Fabry disease - Ten-year follow up Stepien, Karolina M.
 2017
 13 C p. 3-6
4 p.
 artikel
15 Long-term cognitive and somatic outcomes of enzyme replacement therapy in untransplanted Hurler syndrome Eisengart, Julie B.
 2017
 13 C p. 64-68
5 p.
 artikel
16 Mitochondrial cardioencephalopathy due to a COQ4 mutation Finsterer, Josef
 2017
 13 C p. 7-8
2 p.
 artikel
17 Mitochondrial multiorgan disorder syndrome (MIMODS) due to a compound heterozygous mutation in the ACAD9 gene Finsterer, Josef
 2017
 13 C p. 31-32
2 p.
 artikel
18 Neonatal screening for biotinidase deficiency: A 30-year single center experience Porta, Francesco
 2017
 13 C p. 80-82
3 p.
 artikel
19 Plasma fibroblast growth factor-21 levels in patients with inborn errors of metabolism Kirmse, Brian
 2017
 13 C p. 52-54
3 p.
 artikel
20 Refining low protein modular feeds for children on low protein tube feeds with organic acidaemias Daly, A.
 2017
 13 C p. 99-104
6 p.
 artikel
21 Role of AMPD2 in impaired glucose tolerance induced by high fructose diet Hudoyo, Athanasius Wrin
 2017
 13 C p. 23-29
7 p.
 artikel
22 The cardiac glycoside convallatoxin inhibits the growth of colorectal cancer cells in a p53-independent manner Anderson, Sarah E.
 2017
 13 C p. 42-45
4 p.
 artikel
23 The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients Vairo, Filippo Pinto
 2017
 13 C p. 46-51
6 p.
 artikel
24 The use of port-a-caths in adult patients with Lysosomal Storage Disorders receiving Enzyme Replacement Therapy-one centre experience McLoughlin, Mairead
 2017
 13 C p. 111-114
4 p.
 artikel
25 Treating mitochondrial disorders requires full exploitation of available therapeutic options Finsterer, Josef
 2017
 13 C p. 97-98
2 p.
 artikel
26 Type 3 Gaucher disease, diagnostic in adulthood Detollenaere, Charles
 2017
 13 C p. 1-2
2 p.
 artikel
27 Weight loss induced by quetiapine in a 22q11.2DS patient Demily, Caroline
 2017
 13 C p. 95-96
2 p.
 artikel
                             27 gevonden resultaten
 
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