Works matching IS 01418955 AND DT 2010 AND VI 33 AND IP 1

Results: 13

Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 61, doi. 10.1007/s10545-009-9029-2

By:

Arfi, Audrey;
Richard, Magali;
Gandolphe, Christelle;
Scherman, Daniel

Publication type:

Article

Disease severity in sibling pairs with type 1 Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 79, doi. 10.1007/s10545-009-9024-7

By:

Elstein, Deborah;
Gellman, Ayelet;
Altarescu, Gheona;
Abrahamov, Aya;
Hadas-Halpern, Irith;
Phillips, Mici;
Margalit, Maya;
Lebel, Ehud;
Itzchaki, Menachem;
Zimran, Ari

Publication type:

Article

Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 1, doi. 10.1007/s10545-009-9004-y

By:

Sempere, Angela;
Arias, Angela;
Farré, Guillermo;
García-Villoria, Judith;
Rodríguez-Pombo, Pilar;
Desviat, Lurdes;
Merinero, Begoña;
García-Cazorla, Angels;
Vilaseca, Maria;
Ribes, Antonia;
Artuch, Rafael;
Campistol, Jaume

Publication type:

Article

Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 33, doi. 10.1007/s10545-009-9008-7

By:

Coffee, Erin;
Yerkes, Laura;
Ewen, Elizabeth;
Zee, Tiffany;
Tolan, Dean

Publication type:

Article

Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 69, doi. 10.1007/s10545-009-9018-5

By:

Hůlková, Helena;
Poupětová, Helena;
Harzer, Klaus;
Mistry, Pramod;
Aerts, Johannes;
Elleder, Milan

Publication type:

Article

A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 85, doi. 10.1007/s10545-009-9022-9

By:

Tsuji, Megumi;
Aida, Noriko;
Obata, Takayuki;
Tomiyasu, Moyoko;
Furuya, Noritaka;
Kurosawa, Kenji;
Errami, Abdellatif;
Gibson, K.;
Salomons, Gajja;
Jakobs, Cornelis;
Osaka, Hitoshi

Publication type:

Article

A novel mutation in LMBRD1 causes the cblF defect of vitamin B<sub>12</sub> metabolism in a Turkish patient.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 17, doi. 10.1007/s10545-009-9032-7

By:

Gailus, Susann;
Suormala, Terttu;
Malerczyk-Aktas, Ayse;
Toliat, Mohammad;
Wittkampf, Tanja;
Stucki, Martin;
Nürnberg, Peter;
Fowler, Brian;
Hennermann, Julia;
Rutsch, Frank

Publication type:

Article

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 51, doi. 10.1007/s10545-009-9007-8

By:

Harmatz, Paul;
Yu, Zi-Fan;
Giugliani, Roberto;
Schwartz, Ida;
Guffon, Nathalie;
Teles, Elisa;
Miranda, M.;
Wraith, J.;
Beck, Michael;
Arash, Laila;
Scarpa, Maurizio;
Ketteridge, David;
Hopwood, John;
Plecko, Barbara;
Steiner, Robert;
Whitley, Chester;
Kaplan, Paige;
Swiedler, Stuart;
Hardy, Karen;
Berger, Kenneth

Publication type:

Article

Erratum to: Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias.

Published in:

2010

By:

Sauer, S.;
Opp, S.;
Haarmann, A.;
Okun, J.;
Kölker, S.;
Morath, M.

Publication type:

Correction Notice

Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes—possibility for newborn screening.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 43, doi. 10.1007/s10545-009-9003-z

By:

Lukacs, Zoltan;
Nieves Cobos, Paulina;
Mengel, Eugen;
Hartung, Ralf;
Beck, Michael;
Deschauer, Marcus;
Keil, Angelika;
Santer, René

Publication type:

Article

A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 25, doi. 10.1007/s10545-009-9030-9

By:

Huidekoper, Hidde;
Visser, Gepke;
Ackermans, Mariëtte;
Sauerwein, Hans;
Wijburg, Frits

Publication type:

Article

Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 9, doi. 10.1007/s10545-009-9002-0

By:

Nielsen, Jytte;
Nielsen, Karin;
Güttler, Flemming

Publication type:

Article

Tumoral calcinosis.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 91, doi. 10.1007/s10545-009-9019-4

By:

Janssen, Mirian;
Sévaux, Ruud

Publication type:

Article