Works matching IS 01418955 AND DT 2012 AND VI 35 AND IP 2

Results: 18

Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 311, doi. 10.1007/s10545-011-9360-2

By:

Manwaring, Victoria;
Prunty, Helen;
Bainbridge, Katie;
Burke, Derek;
Finnegan, Niamh;
Franses, Rebecca;
Lam, Amanda;
Vellodi, Ashok;
Heales, Simon

Publication type:

Article

Mitochondrial ATP synthase: architecture, function and pathology.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 211, doi. 10.1007/s10545-011-9382-9

By:

Jonckheere, An;
Smeitink, Jan;
Rodenburg, Richard

Publication type:

Article

Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis I and II patients.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 355, doi. 10.1007/s10545-011-9369-6

By:

Clarke, Lorne;
Hemmelgarn, Harmony;
Colobong, Karen;
Thomas, Anita;
Stockler, Sylvia;
Casey, Robin;
Chan, Alicia;
Fernoff, Paul;
Mitchell, John

Publication type:

Article

Modeling mitochondrial dysfunctions in the brain: from mice to men.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 193, doi. 10.1007/s10545-011-9375-8

By:

Breuer, Megan;
Willems, Peter;
Russel, Frans;
Koopman, Werner;
Smeitink, Jan

Publication type:

Article

The adult galactosemic phenotype.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 279, doi. 10.1007/s10545-011-9372-y

By:

Waisbren, Susan;
Potter, Nancy;
Gordon, Catherine;
Green, Robert;
Greenstein, Patricia;
Gubbels, Cynthia;
Rubio-Gozalbo, Estela;
Schomer, Donald;
Welt, Corrine;
Anastasoaie, Vera;
D'Anna, Kali;
Gentile, Jennifer;
Guo, Chao-Yu;
Hecht, Leah;
Jackson, Roberta;
Jansma, Bernadette;
Li, Yijun;
Lip, Va;
Miller, David;
Murray, Michael

Publication type:

Article

Erratum to: Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases.

Published in:

2012

By:

Manwaring, Victoria;
Prunty, Helen;
Bainbridge, Katie;
Burke, Derek;
Finnegan, Niamh;
Franses, Rebecca;
Lam, Amanda;
Vellodi, Ashok;
Heales, Simon

Publication type:

Correction Notice

Survival, but not maturation, is affected in neutrophil progenitors from GSD-1b patients.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 287, doi. 10.1007/s10545-011-9379-4

By:

Visser, Gepke;
Jager, Wilco;
Verhagen, Liesbeth;
Smit, G.;
Wijburg, Frits;
Prakken, Berent;
Coffer, Paul;
Buitenhuis, Miranda

Publication type:

Article

Hearing loss in patients with mucopolysaccharidosis II: Data from HOS - the Hunter Outcome Survey.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 343, doi. 10.1007/s10545-011-9378-5

By:

Keilmann, Annerose;
Nakarat, Todsaporn;
Bruce, Iain;
Molter, David;
Malm, Gunilla

Publication type:

Article

The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 317, doi. 10.1007/s10545-011-9388-3

By:

Capelle, Carine;
Beek, Nadine;
Vries, Juna;
Doorn, Pieter;
Duivenvoorden, Hugo;
Leshner, Robert;
Hagemans, Marloes;
Ploeg, Ans

Publication type:

Article

VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 269, doi. 10.1007/s10545-011-9391-8

By:

Hoffmann, Lars;
Haussmann, Ulrike;
Mueller, Martina;
Spiekerkoetter, Ute

Publication type:

Article

Hippocampal atrophy as a surrogate of neuronal involvement in Fabry disease.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 363, doi. 10.1007/s10545-011-9390-9

By:

Fellgiebel, Andreas;
Wolf, Dominik;
Kolodny, Edwin;
Müller, Matthias

Publication type:

Article

Pregnancy and its management in women with GSD type III - a single centre experience.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 245, doi. 10.1007/s10545-011-9384-7

By:

Ramachandran, Radha;
Wedatilake, Yehani;
Coats, Caroline;
Walker, Fiona;
Elliott, Perry;
Lee, Philip;
Lachmann, Robin;
Murphy, Elaine

Publication type:

Article

Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 325, doi. 10.1007/s10545-011-9395-4

By:

Ebrahim, Hatim;
Baker, Robert;
Mehta, Atul;
Hughes, Derralynn

Publication type:

Article

Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 301, doi. 10.1007/s10545-011-9393-6

By:

Furusawa, Yoshihiko;
Mori-Yoshimura, Madoka;
Yamamoto, Toshiyuki;
Sakamoto, Chikako;
Wakita, Mizuki;
Kobayashi, Yoko;
Fukumoto, Yutaka;
Oya, Yasushi;
Fukuda, Tokiko;
Sugie, Hideo;
Hayashi, Yukiko;
Nishino, Ichizo;
Nonaka, Ikuya;
Murata, Miho

Publication type:

Article

Hearing in adults with Pompe disease.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 335, doi. 10.1007/s10545-011-9396-3

By:

Beek, Nadine;
Verschuure, Hans;
Reuser, Arnold;
Ploeg, Ans;
Doorn, Pieter;
Poublon, René

Publication type:

Article

Prediction of long-term outcome in glycine encephalopathy: a clinical survey.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 253, doi. 10.1007/s10545-011-9398-1

By:

Hennermann, Julia;
Berger, Jeanne-Marie;
Grieben, Ulrike;
Scharer, Gunter;
Hove, Johan

Publication type:

Article

Fabry disease, enzyme replacement therapy and the significance of antibody responses.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 227, doi. 10.1007/s10545-011-9400-y

By:

Deegan, Patrick

Publication type:

Article

Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 263, doi. 10.1007/s10545-011-9394-5

By:

Thimm, Eva;
Richter-Werkle, Renate;
Kamp, Gudrun;
Molke, Bettina;
Herebian, Diran;
Klee, Dirk;
Mayatepek, Ertan;
Spiekerkoetter, Ute

Publication type:

Article