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:

Loeber, J.;
Burgard, Peter;
Cornel, Martina;
Rigter, Tessel;
Weinreich, Stephanie;
Rupp, Kathrin;
Hoffmann, Georg;
Vittozzi, Luciano

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:

Watkins, David;
Rosenblatt, David

Publication type:

Article

Transcobalamin (TC) deficiency and newborn screening.

Published in:

2012

By:

Prasad, Chitra;
Cairney, A.;
Rosenblatt, D.;
Rupar, C.

Publication type:

Letter

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:

Ross, Lainie

Publication type:

Article

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:

Horvath, Rita

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:

Senniappan, Senthil;
Shanti, Balasubramaniam;
James, Chela;
Hussain, Khalid

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:

Braissant, Olivier

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:

Cornel, Martina;
Gille, Johan;
Loeber, J.;
Langen, Annette;
Dankert-Roelse, Jeannette;
Bolhuis, Piet

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:

Koeberl, Dwight

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:

Kranendijk, Martijn;
Struys, Eduard;
Salomons, Gajja;
Knaap, Marjo;
Jakobs, Cornelis

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:

Lerner-Ellis, Jordan

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:

Alexander, Ian;
Kok, Cindy;
Dane, Allison;
Cunningham, Sharon

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:

Luo, Yonglun;
Lin, Lin;
Bolund, Lars;
Jensen, Thomas;
Sørensen, Charlotte

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:

Gregersen, Niels;
Hansen, Jakob;
Palmfeldt, Johan

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:

Burgard, Peter;
Rupp, Kathrin;
Lindner, Martin;
Haege, Gisela;
Rigter, Tessel;
Weinreich, Stephanie;
Loeber, J.;
Taruscio, Domenica;
Vittozzi, Luciano;
Cornel, Martina;
Hoffmann, Georg

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:

Boenzi, Sara;
Pastore, Anna;
Martinelli, Diego;
Goffredo, Bianca;
Boiani, Arianna;
Rizzo, Cristiano;
Dionisi-Vici, Carlo

Publication type:

Article

SSIEM 2011.

Published in:

2012

By:

Blau, Nenad;
Fowler, Brian

Publication type:

Editorial