| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Announcement
|
|
|
2011
|
103 |
2 |
p. I-
1 p.
|
artikel
|
| 2 |
Association of variants in the carnosine peptidase 1 gene (CNDP1) with diabetic nephropathy in American Indians
|
Chakkera, Harini A.
|
|
2011
|
103 |
2 |
p. 185-190
6 p.
|
artikel
|
| 3 |
Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation
|
Fruhman, Gary
|
|
2011
|
103 |
2 |
p. 153-160
8 p.
|
artikel
|
| 4 |
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency
|
Danhauser, Katharina
|
|
2011
|
103 |
2 |
p. 161-166
6 p.
|
artikel
|
| 5 |
Combined Hurler and Sanfilippo syndrome in a sibling pair
|
Sun, Angela
|
|
2011
|
103 |
2 |
p. 135-137
3 p.
|
artikel
|
| 6 |
Corrigendum to “Classical maple syrup urine disease and brain development: Principles of management and formula design” [Mol. Genet. Metab. 99 (2010) 333–345]
|
Strauss, Kevin A.
|
|
2011
|
103 |
2 |
p. 202-
1 p.
|
artikel
|
| 7 |
Corrigendum to “Clinical and molecular investigations of Japanese cases of glutaric academia type 2” [Mol. Genet. Metab. 94 (2008) 61–67]
|
Yotsumoto, Yuka
|
|
2011
|
103 |
2 |
p. 201-
1 p.
|
artikel
|
| 8 |
Dilation of the aortic root in mitochondrial disease patients
|
Brunetti-Pierri, Nicola
|
|
2011
|
103 |
2 |
p. 167-170
4 p.
|
artikel
|
| 9 |
Editorial Board
|
|
|
2011
|
103 |
2 |
p. IFC-
1 p.
|
artikel
|
| 10 |
Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle
|
Koeberl, Dwight D.
|
|
2011
|
103 |
2 |
p. 107-112
6 p.
|
artikel
|
| 11 |
Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: A perspective from the Hunter Outcome Survey (HOS)
|
Burton, Barbara K.
|
|
2011
|
103 |
2 |
p. 113-120
8 p.
|
artikel
|
| 12 |
In vivo quantification of brain injury in adult Niemann–Pick Disease Type C
|
Zaaraoui, Wafaa
|
|
2011
|
103 |
2 |
p. 138-141
4 p.
|
artikel
|
| 13 |
Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene
|
Brunel-Guitton, Catherine
|
|
2011
|
103 |
2 |
p. 193-196
4 p.
|
artikel
|
| 14 |
Newborn screening for Tyr-I: Two years' experience of the New York State program
|
Morrissey, M.A.
|
|
2011
|
103 |
2 |
p. 191-192
2 p.
|
artikel
|
| 15 |
Oxidative stress in patients with mucopolysaccharidosis type II before and during enzyme replacement therapy
|
Filippon, Letícia
|
|
2011
|
103 |
2 |
p. 121-127
7 p.
|
artikel
|
| 16 |
Pirfenidone for the treatment of Hermansky–Pudlak syndrome pulmonary fibrosis
|
O'Brien, Kevin
|
|
2011
|
103 |
2 |
p. 128-134
7 p.
|
artikel
|
| 17 |
Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI
|
Baldo, Guilherme
|
|
2011
|
103 |
2 |
p. 197-198
2 p.
|
artikel
|
| 18 |
Polymorphisms in FADS1 and FADS2 alter desaturase activity in young Caucasian and Asian adults
|
Merino, Diana M.
|
|
2011
|
103 |
2 |
p. 171-178
8 p.
|
artikel
|
| 19 |
Protective effects of d-3-hydroxybutyrate and propionate during hypoglycemic coma: Clinical and biochemical insights from infant rats
|
Schutz, Peter W.
|
|
2011
|
103 |
2 |
p. 179-184
6 p.
|
artikel
|
| 20 |
Pulmonary function and pathology in hydroxypropyl-beta-cyclodextin-treated and untreated Npc1 −/− mice
|
Muralidhar, Akshay
|
|
2011
|
103 |
2 |
p. 142-147
6 p.
|
artikel
|
| 21 |
Reply to the article of C. Markello et al. entitled “Vascular pathology of medial arterial calcifications in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum”
|
Lefthériotis, Georges
|
|
2011
|
103 |
2 |
p. 199-200
2 p.
|
artikel
|
| 22 |
Table of Contents
|
|
|
2011
|
103 |
2 |
p. iii-iv
nvt p.
|
artikel
|
| 23 |
Utilization of targeted array comparative genomic hybridization, MitoMet®, in prenatal diagnosis of metabolic disorders
|
Landsverk, Megan L.
|
|
2011
|
103 |
2 |
p. 148-152
5 p.
|
artikel
|
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