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                             25 results found
no title author magazine year volume issue page(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.
 article
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.
 article
3 Apelin/APJ system as a therapeutic target in diabetes and its complications Hu, Haoliang
 2016
 119 1-2 p. 20-27
8 p.
 article
4 CBP/p300 acetyltransferase activity in hematologic malignancies Dutta, Ritika
 2016
 119 1-2 p. 37-43
7 p.
 article
5 Development of a model system for neuronal dysfunction in Fabry disease Kaneski, Christine R.
 2016
 119 1-2 p. 144-150
7 p.
 article
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.
 article
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.
 article
8 Editorial Board 2016
 119 1-2 p. IFC-
1 p.
 article
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.
 article
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.
 article
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.
 article
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.
 article
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.
 article
14 Mitochondrial disease patients' perception of dietary supplements' use Karaa, Amel
 2016
 119 1-2 p. 100-108
9 p.
 article
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.
 article
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.
 article
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.
 article
18 Patients' perspectives on newborn screening for later-onset lysosomal storage diseases Lisi, Emily C.
 2016
 119 1-2 p. 109-114
6 p.
 article
19 Physical therapy management of infants and children with hypophosphatasia Phillips, Dawn
 2016
 119 1-2 p. 14-19
6 p.
 article
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.
 article
21 Rapid detection of G6PD mutations by multicolor melting curve analysis Xia, Zhongmin
 2016
 119 1-2 p. 168-173
6 p.
 article
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.
 article
23 Table of Contents 2016
 119 1-2 p. iii-v
nvt p.
 article
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.
 article
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.
 article
                             25 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands