| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Aldehyde dehydrogenase 2 in aplastic anemia, Fanconi anemia and hematopoietic stem cells
|
Van Wassenhove, Lauren D.
|
|
2016
|
119 |
1-2 |
p. 28-36
9 p.
|
artikel
|
| 2 |
Ammonium accumulation is a primary effect of 2-methylcitrate exposure in an in vitro model for brain damage in methylmalonic aciduria
|
Cudré-Cung, Hong-Phuc
|
|
2016
|
119 |
1-2 |
p. 57-67
11 p.
|
artikel
|
| 3 |
Apelin/APJ system as a therapeutic target in diabetes and its complications
|
Hu, Haoliang
|
|
2016
|
119 |
1-2 |
p. 20-27
8 p.
|
artikel
|
| 4 |
CBP/p300 acetyltransferase activity in hematologic malignancies
|
Dutta, Ritika
|
|
2016
|
119 |
1-2 |
p. 37-43
7 p.
|
artikel
|
| 5 |
Development of a model system for neuronal dysfunction in Fabry disease
|
Kaneski, Christine R.
|
|
2016
|
119 |
1-2 |
p. 144-150
7 p.
|
artikel
|
| 6 |
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis
|
Fietz, Michael
|
|
2016
|
119 |
1-2 |
p. 160-167
8 p.
|
artikel
|
| 7 |
DNA methylation in the pathophysiology of hyperphenylalaninemia in the PAHenu2 mouse model of phenylketonuria
|
Dobrowolski, S.F.
|
|
2016
|
119 |
1-2 |
p. 1-7
7 p.
|
artikel
|
| 8 |
Editorial Board
|
|
|
2016
|
119 |
1-2 |
p. IFC-
1 p.
|
artikel
|
| 9 |
Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine
|
Duley, John A.
|
|
2016
|
119 |
1-2 |
p. 83-90
8 p.
|
artikel
|
| 10 |
Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith–Wiedemann syndrome
|
Lin, Hsiang-Yu
|
|
2016
|
119 |
1-2 |
p. 8-13
6 p.
|
artikel
|
| 11 |
Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant
|
Donti, Taraka R.
|
|
2016
|
119 |
1-2 |
p. 68-74
7 p.
|
artikel
|
| 12 |
Expression of FBN1 during adipogenesis: Relevance to the lipodystrophy phenotype in Marfan syndrome and related conditions
|
Davis, Margaret R.
|
|
2016
|
119 |
1-2 |
p. 174-185
12 p.
|
artikel
|
| 13 |
Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome
|
Hendriksz, Christian J.
|
|
2016
|
119 |
1-2 |
p. 131-143
13 p.
|
artikel
|
| 14 |
Mitochondrial disease patients' perception of dietary supplements' use
|
Karaa, Amel
|
|
2016
|
119 |
1-2 |
p. 100-108
9 p.
|
artikel
|
| 15 |
Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion
|
Stiles, Ashlee R.
|
|
2016
|
119 |
1-2 |
p. 91-99
9 p.
|
artikel
|
| 16 |
Neonatal tolerance induction enables accurate evaluation of gene therapy for MPS I in a canine model
|
Hinderer, Christian
|
|
2016
|
119 |
1-2 |
p. 124-130
7 p.
|
artikel
|
| 17 |
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative
|
Bentler, Kristi
|
|
2016
|
119 |
1-2 |
p. 75-82
8 p.
|
artikel
|
| 18 |
Patients' perspectives on newborn screening for later-onset lysosomal storage diseases
|
Lisi, Emily C.
|
|
2016
|
119 |
1-2 |
p. 109-114
6 p.
|
artikel
|
| 19 |
Physical therapy management of infants and children with hypophosphatasia
|
Phillips, Dawn
|
|
2016
|
119 |
1-2 |
p. 14-19
6 p.
|
artikel
|
| 20 |
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study
|
van der Ploeg, Ans
|
|
2016
|
119 |
1-2 |
p. 115-123
9 p.
|
artikel
|
| 21 |
Rapid detection of G6PD mutations by multicolor melting curve analysis
|
Xia, Zhongmin
|
|
2016
|
119 |
1-2 |
p. 168-173
6 p.
|
artikel
|
| 22 |
Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry
|
Hopkin, Robert J.
|
|
2016
|
119 |
1-2 |
p. 151-159
9 p.
|
artikel
|
| 23 |
Table of Contents
|
|
|
2016
|
119 |
1-2 |
p. iii-v
nvt p.
|
artikel
|
| 24 |
The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors
|
Schillaci, Lori-Anne P.
|
|
2016
|
119 |
1-2 |
p. 50-56
7 p.
|
artikel
|
| 25 |
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families
|
Sass, Jörn Oliver
|
|
2016
|
119 |
1-2 |
p. 44-49
6 p.
|
artikel
|
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