Works matching IS 01418955 AND DT 2012 AND VI 35 AND IP 4
Results: 17
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 - From blood spot to screening result.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 4, p. 603, doi. 10.1007/s10545-012-9483-0
- By:
- Publication type:
- Article
Update and new concepts in vitamin responsive disorders of folate transport and metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 4, p. 665, doi. 10.1007/s10545-011-9418-1
- By:
- Publication type:
- Article
Transcobalamin (TC) deficiency and newborn screening.
- Published in:
- 2012
- By:
- Publication type:
- Letter
Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ).
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 4, p. 679, doi. 10.1007/s10545-011-9434-1
- By:
- Publication type:
- Article
Newborn screening for lysosomal storage diseases: an ethical and policy analysis.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 4, p. 627, doi. 10.1007/s10545-011-9435-0
- By:
- Publication type:
- Article
Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 4, p. 589, doi. 10.1007/s10545-011-9441-2
- By:
- Publication type:
- Article
Improving test properties for neonatal cystic fibrosis screening in the Netherlands before the nationwide start by May 1st 2011.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 4, p. 635, doi. 10.1007/s10545-012-9452-7
- By:
- Publication type:
- Article
Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 4, p. 655, doi. 10.1007/s10545-011-9433-2
- By:
- Publication type:
- Article
Progress in understanding 2-hydroxyglutaric acidurias.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 4, p. 571, doi. 10.1007/s10545-012-9462-5
- By:
- Publication type:
- Article
In search of proof-of-concept: gene therapy for glycogen storage disease type Ia.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 4, p. 671, doi. 10.1007/s10545-012-9454-5
- By:
- Publication type:
- Article
The clinical implementation of whole genome sequencing: a conversation with seven scientific experts.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 4, p. 689, doi. 10.1007/s10545-012-9463-4
- By:
- Publication type:
- Article
Gene therapy for metabolic disorders: an overview with a focus on urea cycle disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 4, p. 641, doi. 10.1007/s10545-012-9467-0
- By:
- Publication type:
- Article
Genetically modified pigs for biomedical research.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 4, p. 695, doi. 10.1007/s10545-012-9475-0
- By:
- Publication type:
- Article
Mitochondrial proteomics-a tool for the study of metabolic disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 4, p. 715, doi. 10.1007/s10545-012-9480-3
- By:
- Publication type:
- Article
Creatine metabolism in urea cycle defects.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 4, p. 647, doi. 10.1007/s10545-012-9494-x
- By:
- Publication type:
- Article
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2 - From screening laboratory results to treatment, follow-up and quality assurance.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 4, p. 613, doi. 10.1007/s10545-012-9484-z
- By:
- Publication type:
- Article
SSIEM 2011.
- Published in:
- 2012
- By:
- Publication type:
- Editorial