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10 gevonden resultaten

nr	titel	auteur	tijdschrift	jaar	jaarg.	afl.	pagina('s)	type
1	A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies	Montioli, Riccardo			127	2	p. 132-137	artikel
2	Circulating blood cellular glucose transporters – Surrogate biomarkers for neonatal hypoxic-ischemic encephalopathy assessed by novel scoring systems	Maggiotto, Liesbeth V.			127	2	p. 166-173	artikel
3	Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases	Ferreira, Carlos R.			127	2	p. 117-121	artikel
4	Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency	Madeo, Annalisa			127	2	p. 147-157	artikel
5	Cover 2 / Ed. Board				127	2	p. IFC	artikel
6	Gaucher disease type 3c: New patients with unique presentations and review of the literature	Kurolap, Alina			127	2	p. 138-146	artikel
7	Genetic correction of induced pluripotent stem cells mediated by transcription activator-like effector nucleases targeting ALPL recovers enzyme activity and calcification in vitro	Nakano, Chiho			127	2	p. 158-165	artikel
8	Harmonizing care for rare diseases: How we developed the mitochondrial care network in the United States	Karaa, Amel			127	2	p. 122-127	artikel
9	Table of Contents				127	2	p. iii	artikel
10	White matter lesions in treated late onset Pompe disease are not different to matched controls	Schneider, Ilka			127	2	p. 128-131	artikel

10 gevonden resultaten

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