Works matching IS 01418955 AND DT 2010 AND VI 33 AND IP 3

Results: 12

High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 3, p. 291, doi. 10.1007/s10545-010-9070-1

By:

Taddei, Tamar;
Dziura, James;
Chen, Shu;
Yang, Ruhua;
Hyogo, Hideyuki;
Sullards, Cameron;
Cohen, David;
Pastores, Gregory;
Mistry, Pramod

Publication type:

Article

High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 3, p. 247, doi. 10.1007/s10545-010-9101-y

By:

Olsen, Rikke;
Dobrowolski, Steven;
Kjeldsen, Margrethe;
Hougaard, David;
Simonsen, Henrik;
Gregersen, Niels;
Andresen, Brage

Publication type:

Article

Gaucher disease: a systematic review and meta-analysis of bone complications and their response to treatment.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 3, p. 271, doi. 10.1007/s10545-010-9071-0

By:

Piran, Siavash;
Amato, Dominick

Publication type:

Article

Basal ganglia lesions in the early stage of Menkes disease.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 3, p. 301, doi. 10.1007/s10545-010-9063-0

By:

Koprivsek, Katarina;
Lucic, Milos;
Kozic, Dusko;
Djordjevic, Maja;
Kravljanac, Ruzica

Publication type:

Article

Should transcobalamin deficiency be treated aggressively?

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 3, p. 223, doi. 10.1007/s10545-010-9074-x

By:

Schiff, Manuel;
Ogier de Baulny, Hélène;
Bard, Ghislaine;
Barlogis, Vincent;
Hamel, Christian;
Moat, Stuart;
Odent, Sylvie;
Shortland, Graham;
Touati, Guy;
Giraudier, Stéphane

Publication type:

Article

Hematopoiesis in the thymidine kinase 2 deficient mouse model of mitochondrial DNA depletion syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 3, p. 231, doi. 10.1007/s10545-010-9102-x

By:

Zhou, Xiaoshan;
Johansson, Magnus;
Solaroli, Nicola;
Rozell, Björn;
Grandien, Alf;
Karlsson, Anna

Publication type:

Article

Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 3, p. 211, doi. 10.1007/s10545-010-9086-6

By:

Pedersen, Christina;
Zolkipli, Zarazuela;
Vang, Søren;
Palmfeldt, Johan;
Kjeldsen, Margrethe;
Stenbroen, Vibeke;
Schmidt, Stinne;
Wanders, Ronald;
Ruiter, Jos;
Wibrand, Flemming;
Tein, Ingrid;
Gregersen, Niels

Publication type:

Article

Pre-exercise medium-chain triglyceride application prevents acylcarnitine accumulation in skeletal muscle from very-long-chain acyl-CoA-dehydrogenase-deficient mice.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 3, p. 237, doi. 10.1007/s10545-010-9105-7

By:

Primassin, Sonja;
Tucci, Sara;
Herebian, Diran;
Seibt, Annette;
Hoffmann, Lars;
Veld, Frank;
Spiekerkoetter, Ute

Publication type:

Article

Glycosphingolipid storage leads to the enhanced degradation of the B cell receptor in Sandhoff disease mice.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 3, p. 261, doi. 10.1007/s10545-010-9109-3

By:

te Vruchte, Danielle;
Jeans, Aruna;
Platt, Frances;
Sillence, Daniel

Publication type:

Article

Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 3, p. 281, doi. 10.1007/s10545-010-9072-z

By:

Marshall, John;
McEachern, Kerry;
Chuang, Wei-Lien;
Hutto, Elizabeth;
Siegel, Craig;
Shayman, James;
Grabowski, Greg;
Scheule, Ronald;
Copeland, Diane;
Cheng, Seng

Publication type:

Article

Lysosomal lipid vacuoles in macrophages located in the colon.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 3, p. 303, doi. 10.1007/s10545-010-9110-x

By:

Meersseman, Wouter;
Vanderschueren, Steven;
Vos, Rita;
Cassiman, David

Publication type:

Article

Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan disease.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 3, p. 195, doi. 10.1007/s10545-010-9100-z

By:

Arun, Peethambaran;
Madhavarao, Chikkathur;
Moffett, John;
Hamilton, Kristen;
Grunberg, Neil;
Ariyannur, Prasanth;
Gahl, William;
Anikster, Yair;
Mog, Steven;
Hallows, William;
Denu, John;
Namboodiri, Aryan

Publication type:

Article