Works matching IS 01418955 AND DT 2016 AND VI 39 AND IP 2

Results: 16

Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 231, doi. 10.1007/s10545-015-9887-8

By:

Jamiolkowski, Dagmar;
Kölker, Stefan;
Glahn, Esther;
Barić, Ivo;
Zeman, Jiri;
Baumgartner, Matthias;
Mühlhausen, Chris;
Garcia-Cazorla, Angels;
Gleich, Florian;
Haege, Gisela;
Burgard, Peter

Publication type:

Article

Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 253, doi. 10.1007/s10545-015-9889-6

By:

Güngör, Deniz;
Kruijshaar, Michelle;
Plug, Iris;
Rizopoulos, Dimitris;
Kanters, Tim;
Wens, Stephan;
Reuser, Arnold;
Doorn, Pieter;
Ploeg, Ans

Publication type:

Article

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 243, doi. 10.1007/s10545-015-9894-9

By:

Carrozzo, Rosalba;
Verrigni, Daniela;
Rasmussen, Magnhild;
Coo, Rene;
Amartino, Hernan;
Bianchi, Marzia;
Buhas, Daniela;
Mesli, Samir;
Naess, Karin;
Born, Alfred;
Woldseth, Berit;
Prontera, Paolo;
Batbayli, Mustafa;
Ravn, Kirstine;
Joensen, Fróði;
Cordelli, Duccio;
Santorelli, Filippo;
Tulinius, Mar;
Darin, Niklas;
Duno, Morten

Publication type:

Article

Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 285, doi. 10.1007/s10545-015-9895-8

By:

Ebbink, Berendine;
Brands, Marion;
Hout, Johanna;
Lequin, Maarten;
Braak, Robert;
Weitgraven, Rianne;
Plug, Iris;
Aarsen, Femke;
Ploeg, Ans

Publication type:

Article

Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 305, doi. 10.1007/s10545-015-9897-6

By:

Jacobsen, Jessie;
Wilson, Callum;
Cunningham, Vicki;
Glamuzina, Emma;
Prosser, Debra;
Love, Donald;
Burgess, Trent;
Taylor, Juliet;
Swan, Brendan;
Hill, Rosamund;
Robertson, Stephen;
Snell, Russell;
Lehnert, Klaus

Publication type:

Article

Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 261, doi. 10.1007/s10545-015-9898-5

By:

Broomfield, A.;
Fletcher, J.;
Davison, J.;
Finnegan, N.;
Fenton, M.;
Chikermane, A.;
Beesley, C.;
Harvey, K.;
Cullen, E.;
Stewart, C.;
Santra, S.;
Vijay, S.;
Champion, M.;
Abulhoul, L.;
Grunewald, S.;
Chakrapani, A.;
Cleary, M.;
Jones, S.;
Vellodi, A.

Publication type:

Article

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 211, doi. 10.1007/s10545-015-9899-4

By:

Rips, Jonathan;
Almashanu, Shlomo;
Mandel, Hanna;
Josephsberg, Sagi;
Lerman-Sagie, Tally;
Zerem, Ayelet;
Podeh, Ben;
Anikster, Yair;
Shaag, Avraham;
Luder, Anthony;
Staretz Chacham, Orna;
Spiegel, Ronen

Publication type:

Article

Neonatal cellular and gene therapies for mucopolysaccharidoses: the earlier the better?

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 189, doi. 10.1007/s10545-015-9900-2

By:

Tomatsu, Shunji;
Azario, Isabella;
Sawamoto, Kazuki;
Pievani, Alice;
Biondi, Andrea;
Serafini, Marta

Publication type:

Article

Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders-review and meta-analysis of observational studies published over more than 35 years.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 219, doi. 10.1007/s10545-015-9901-1

By:

Burgard, Peter;
Kölker, Stefan;
Haege, Gisela;
Lindner, Martin;
Hoffmann, Georg

Publication type:

Article

Acute fatal metabolic complications in alkaptonuria.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 203, doi. 10.1007/s10545-015-9902-0

By:

Davison, A.;
Milan, A.;
Gallagher, J.;
Ranganath, L.

Publication type:

Article

Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 173, doi. 10.1007/s10545-015-9903-z

By:

Sasarman, Florin;
Maftei, Catalina;
Campeau, Philippe;
Brunel-Guitton, Catherine;
Mitchell, Grant;
Allard, Pierre

Publication type:

Article

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 273, doi. 10.1007/s10545-015-9904-y

By:

Staufner, Christian;
Lindner, Martin;
Dionisi-Vici, Carlo;
Freisinger, Peter;
Dobbelaere, Dries;
Douillard, Claire;
Makhseed, Nawal;
Straub, Beate;
Kahrizi, Kimia;
Ballhausen, Diana;
Marca, Giancarlo;
Kölker, Stefan;
Haas, Dorothea;
Hoffmann, Georg;
Grünert, Sarah;
Blom, Henk

Publication type:

Article

3-Methylcrotonyl-CoA carboxylase deficiency: to screen or not to screen?

Published in:

2016

By:

Wilcken, Bridget

Publication type:

Editorial

Pride and protein.

Published in:

2016

By:

Stern, William

Publication type:

Book Review

Mannose receptor-mediated delivery of moss-made α-galactosidase A efficiently corrects enzyme deficiency in Fabry mice.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 293, doi. 10.1007/s10545-015-9886-9

By:

Shen, Jin-Song;
Busch, Andreas;
Day, Taniqua;
Meng, Xing-Li;
Yu, Chun;
Dabrowska-Schlepp, Paulina;
Fode, Benjamin;
Niederkrüger, Holger;
Forni, Sabrina;
Chen, Shuyuan;
Schiffmann, Raphael;
Frischmuth, Thomas;
Schaaf, Andreas

Publication type:

Article

Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 309, doi. 10.1007/s10545-015-9909-6

By:

Korner, Germaine;
Scherer, Tanja;
Adamsen, Dea;
Rebuffat, Alexander;
Crabtree, Mark;
Rassi, Anahita;
Scavelli, Rossana;
Homma, Daigo;
Ledermann, Birgit;
Konrad, Daniel;
Ichinose, Hiroshi;
Wolfrum, Christian;
Horsch, Marion;
Rathkolb, Birgit;
Klingenspor, Martin;
Beckers, Johannes;
Wolf, Eckhard;
Gailus-Durner, Valérie;
Fuchs, Helmut;
Angelis, Martin

Publication type:

Article