Works matching IS 01418955 AND DT 2011 AND VI 34 AND IP 5

Results: 15

Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1083, doi. 10.1007/s10545-011-9323-7

By:

Pérez-Poyato, María-Socorro;
Milà Recansens, Montserrat;
Ferrer Abizanda, Isidre;
Montero Sánchez, Raquel;
Rodríguez-Revenga, Laia;
Cusí Sánchez, Victoria;
García González, M.;
Domingo Jiménez, Rosario;
Camino León, Rafael;
Velázquez Fragua, Ramón;
Martínez-Bermejo, Antonio;
Pineda Marfà, Mercè

Publication type:

Article

Burden of illness of Pompe disease in patients only receiving supportive care.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1045, doi. 10.1007/s10545-011-9320-x

By:

Kanters, Tim;
Hagemans, Marloes;
Beek, Nadine;
Rutten, Frans;
Ploeg, Ans;
Hakkaart, Leona

Publication type:

Article

Proton nuclear magnetic resonance spectroscopic detection of oligomannosidic n glycans in alpha-mannosidosis: a method of monitoring treatment.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1023, doi. 10.1007/s10545-011-9331-7

By:

Avenarius, Derk;
Svendsen, John-Sigurd;
Malm, Dag

Publication type:

Article

Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1029, doi. 10.1007/s10545-011-9336-2

By:

Muñoz-Rojas, María;
Bay, Luisa;
Sanchez, Luz;
Kuijck, Marcel;
Ospina, Sandra;
Cabello, Juan;
Martins, Ana

Publication type:

Article

Genistein supplementation in patients affected by Sanfilippo disease.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1039, doi. 10.1007/s10545-011-9342-4

By:

Delgadillo, Verónica;
O'Callaghan, Maria del Mar;
Artuch, Rafael;
Montero, Raquel;
Pineda, Mercedes

Publication type:

Article

Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1075, doi. 10.1007/s10545-011-9346-0

By:

Cialone, Jennifer;
Augustine, Erika;
Newhouse, Nicole;
Adams, Heather;
Vierhile, Amy;
Marshall, Frederick;
Blieck, Elisabeth;
Kwon, Jennifer;
Rothberg, Paul;
Mink, Jonathan

Publication type:

Article

A complete deficiency of Hyaluronoglucosaminidase 1 ( HYAL1) presenting as familial juvenile idiopathic arthritis.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1013, doi. 10.1007/s10545-011-9343-3

By:

Imundo, Lisa;
LeDuc, Charles;
Guha, Saurav;
Brown, Marc;
Perino, Giorgio;
Gushulak, Lara;
Triggs-Raine, Barbara;
Chung, Wendy

Publication type:

Article

Emerging therapies for neurodegenerative lysosomal storage disorders - from concept to reality.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1003, doi. 10.1007/s10545-011-9341-5

By:

Hemsley, Kim;
Hopwood, John

Publication type:

Article

Thymic involution and corticosterone level in Sandhoff disease model mice: new aspects the pathogenesis of GM2 gangliosidosis.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1061, doi. 10.1007/s10545-011-9316-6

By:

Matsuoka, Kazuhiko;
Tsuji, Daisuke;
Taki, Takao;
Itoh, Kohji

Publication type:

Article

Cell microencapsulation: a potential tool for the treatment of neuronopathic lysosomal storage diseases.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 983, doi. 10.1007/s10545-011-9350-4

By:

Matte, Ursula;
Lagranha, Valeska;
Carvalho, Talita;
Mayer, Fabiana;
Giugliani, Roberto

Publication type:

Article

Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1069, doi. 10.1007/s10545-011-9351-3

By:

Bosch, Jeroen;
Oemardien, Linda;
Srebniak, Malgorzata;
Piraud, Monique;
Huijmans, Jan;
Verheijen, Frans;
Ruijter, George

Publication type:

Article

Synovium, synergy and serendipity.

Published in:

2011

By:

Pastores, Gregory

Publication type:

Editorial

Four-year follow-up of chronic neuronopathic Gaucher disease in Europeans using a modified severity scoring tool.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1053, doi. 10.1007/s10545-011-9347-z

By:

Davies, Elin;
Mengel, Eugen;
Tylki-Szymanska, Anna;
Kleinotiene, G.;
Reinke, Joerg;
Vellodi, Ashok

Publication type:

Article

Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1095, doi. 10.1007/s10545-011-9361-1

By:

Groeschel, Samuel;
Kehrer, Christiane;
Engel, Corinna;
í Dali, Christine;
Bley, Annette;
Steinfeld, Robert;
Grodd, Wolfgang;
Krägeloh-Mann, Ingeborg

Publication type:

Article

Gastrointestinal disturbances and their management in miglustat-treated patients.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 991, doi. 10.1007/s10545-011-9368-7

By:

Belmatoug, Nadia;
Burlina, Alberto;
Giraldo, Pilar;
Hendriksz, Chris;
Kuter, David;
Mengel, Eugen;
Pastores, Gregory

Publication type:

Article