Works matching IS 01418955 AND DT 2010 AND VI 33 AND IP 6

Results: 25

Nutritional issues in treating phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 659, doi. 10.1007/s10545-010-9043-4

By:

Feillet, François;
Agostoni, Carlo

Publication type:

Article

Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 727, doi. 10.1007/s10545-010-9201-8

By:

Bembi, Bruno;
Pisa, Federica;
Confalonieri, Marco;
Ciana, Giovanni;
Fiumara, Agata;
Parini, Rossella;
Rigoldi, Miriam;
Moglia, Arrigo;
Costa, Alfredo;
Carlucci, Annalisa;
Danesino, Cesare;
Pittis, Maria;
Dardis, Andrea;
Ravaglia, Sabrina

Publication type:

Article

Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 649, doi. 10.1007/s10545-010-9185-4

By:

Muntau, Ania;
Gersting, Søren

Publication type:

Article

Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 769, doi. 10.1007/s10545-010-9175-6

By:

Stein, Philip;
Malhotra, Advitya;
Haims, Andrew;
Pastores, Gregory;
Mistry, Pramod

Publication type:

Article

Advances and challenges in phenylketonuria.

Published in:

2010

By:

Harding, Cary;
Blau, Nenad

Publication type:

Editorial

Large neutral amino acids in the treatment of PKU: from theory to practice.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 671, doi. 10.1007/s10545-010-9216-1

By:

Spronsen, Francjan;
Groot, Martijn;
Hoeksma, Marieke;
Reijngoud, Dirk-Jan;
Rijn, Margreet

Publication type:

Article

SSIEM reflections 2004-2010: the growing stature of our society.

Published in:

2010

By:

Jakobs, Cornelis

Publication type:

Editorial

Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 715, doi. 10.1007/s10545-010-9192-5

By:

Coffee, Erin;
Tolan, Dean

Publication type:

Article

Therapeutic liver repopulation for phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 681, doi. 10.1007/s10545-010-9099-1

By:

Harding, Cary;
Gibson, K.

Publication type:

Article

Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 747, doi. 10.1007/s10545-010-9206-3

By:

Chakrapani, Anupam;
Vellodi, Ashok;
Robinson, Peter;
Jones, Simon;
Wraith, J.

Publication type:

Article

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 759, doi. 10.1007/s10545-010-9199-y

By:

Valstar, Marlies;
Bruggenwirth, Hennie;
Olmer, Renske;
Wevers, Ron;
Verheijen, Frans;
Poorthuis, Ben;
Halley, Dicky;
Wijburg, Frits

Publication type:

Article

S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 705, doi. 10.1007/s10545-010-9171-x

By:

Grubbs, Randall;
Vugrek, Oliver;
Deisch, Jeremy;
Wagner, Conrad;
Stabler, Sally;
Allen, Robert;
Barić, Ivo;
Rados, Marko;
Mudd, S.

Publication type:

Article

Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 803, doi. 10.1007/s10545-010-9200-9

By:

Grandis, Elisa;
Serrano, Mercedes;
Pérez-Dueñas, Belén;
Ormazábal, Aida;
Montero, Raquel;
Veneselli, Edvige;
Pineda, Mercè;
González, Verónica;
Sanmartí, Francesc;
Fons, Carmen;
Sans, Anna;
Cormand, Bru;
Puelles, Luis;
Alonso, Antonia;
Campistol, Jaime;
Artuch, Rafael;
García-Cazorla, Angels

Publication type:

Article

Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 795, doi. 10.1007/s10545-010-9196-1

By:

Pérez-Dueñas, Belén;
Toma, Claudio;
Ormazábal, Aida;
Muchart, Jordi;
Sanmartí, Francesc;
Bombau, Georgina;
Serrano, Mercedes;
García-Cazorla, Angels;
Cormand, Bru;
Artuch, Rafael

Publication type:

Article

Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 737, doi. 10.1007/s10545-010-9204-5

By:

Ravaglia, Sabrina;
Pichiecchio, Anna;
Ponzio, Michela;
Danesino, Cesare;
Saeidi Garaghani, Kolsoum;
Poloni, Guy;
Toscano, Antonio;
Moglia, Arrigo;
Carlucci, Annalisa;
Bini, Paola;
Ceroni, Mauro;
Bastianello, Stefano

Publication type:

Article

Insights into novel cellular injury mechanisms by gene expression profiling in nephropathic cystinosis.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 775, doi. 10.1007/s10545-010-9203-6

By:

Sansanwal, Poonam;
Li, Li;
Hsieh, Szu-Chuan;
Sarwal, Minnie

Publication type:

Article

CRIM-negative infantile Pompe disease: 42-month treatment outcome.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 751, doi. 10.1007/s10545-010-9209-0

By:

Rohrbach, Marianne;
Klein, Andrea;
Köhli-Wiesner, Alice;
Veraguth, Dorothe;
Scheer, Ianina;
Balmer, Christian;
Lauener, Roger;
Baumgartner, Matthias

Publication type:

Article

Erratum to: Abstract 332-P.

Published in:

2010

By:

MacDonald, Anita;
Cochrane, Barbara;
Loveridge, Nik

Publication type:

Correction Notice

Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 697, doi. 10.1007/s10545-010-9164-9

By:

Opladen, Thomas;
Okun, Jürgen;
Burgard, Peter;
Blau, Nenad;
Hoffmann, Georg

Publication type:

Article

Neurocognitive functioning in school-aged cystinosis patients.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 787, doi. 10.1007/s10545-010-9182-7

By:

Besouw, M.;
Hulstijn-Dirkmaat, G.;
Rijken, R.;
Cornelissen, E.;
Dael, C.;
Walle, J.;
Lilien, M.;
Levtchenko, E.

Publication type:

Article

Erratum to: Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values.

Published in:

2010

By:

Opladen, Thomas;
Okun, Jürgen;
Burgard, Peter;
Blau, Nenad;
Hoffmann, Georg

Publication type:

Correction Notice

The reality of dietary compliance in the management of phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 665, doi. 10.1007/s10545-010-9073-y

By:

MacDonald, Anita;
Gokmen-Ozel, Hulya;
Rijn, Margreet;
Burgard, Peter

Publication type:

Article

Long-term correction of murine phenylketonuria by viral gene transfer: liver versus muscle.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 677, doi. 10.1007/s10545-010-9044-3

By:

Thöny, Beat

Publication type:

Article

BH therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 689, doi. 10.1007/s10545-010-9224-1

By:

Singh, Rani;
Quirk, Meghan;
Douglas, Teresa;
Brauchla, Mary

Publication type:

Article

Erratum to: Congenital toxoplasmosis-a report on the Danish neonatal screening programme 1999-2007.

Published in:

2010

By:

Röser, Dennis;
Nielsen, Henrik;
Petersen, Eskild;
Saugmann-Jensen, Peter;
Nørgaard-Pedersen, Bent

Publication type:

Correction Notice