Works matching IS 01418955 AND DT 2012 AND VI 35 AND IP 3

Results: 22

3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 437, doi. 10.1007/s10545-011-9381-x

By:

Sass, Jörn;
Walter, Melanie;
Shield, Julian;
Atherton, Andrea;
Garg, Uttam;
Scott, David;
Woods, C.;
Smith, Laurie

Publication type:

Article

A series of pregnancies in women with inherited metabolic disease.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 419, doi. 10.1007/s10545-011-9389-2

By:

Langendonk, Janneke;
Roos, Jonathan;
Angus, Lindsay;
Williams, Monique;
Karstens, François;
Klerk, Johannes;
Maritz, Charlé;
Ben-Omran, Tawfeg;
Williamson, Catherine;
Lachmann, Robin;
Murphy, Elaine

Publication type:

Article

Unfolded protein response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 479, doi. 10.1007/s10545-011-9403-8

By:

Villani, Guglielmo;
Chierchia, Armando;
Napoli, Daniele;
Natale, Paola

Publication type:

Article

Point mutation instability (PIN) mutator phenotype as model for true back mutations seen in hereditary tyrosinemia type 1 - a hypothesis.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 407, doi. 10.1007/s10545-011-9401-x

By:

Dyk, Etresia;
Pretorius, Pieter

Publication type:

Article

An improved LC-MS/MS method for the detection of classic and low excretor glutaric acidemia type 1.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 431, doi. 10.1007/s10545-011-9405-6

By:

Moore, Tereza;
Le, Anthony;
Cowan, Tina

Publication type:

Article

Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 505, doi. 10.1007/s10545-011-9404-7

By:

Gelder, C.;
Capelle, C.;
Ebbink, B.;
Moor-van Nugteren, I.;
Hout, J.;
Hakkesteegt, M.;
Doorn, P.;
Coo, I.;
Reuser, A.;
Gier, H.;
Ploeg, A.

Publication type:

Article

Deletion of GPIHBP1 causing severe chylomicronemia.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 531, doi. 10.1007/s10545-011-9406-5

By:

Rios, Jonathan;
Shastry, Savitha;
Jasso, Juan;
Hauser, Natalie;
Garg, Abhimanyu;
Bensadoun, André;
Cohen, Jonathan;
Hobbs, Helen

Publication type:

Article

Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 451, doi. 10.1007/s10545-011-9408-3

By:

Giordano, Carla;
Viscomi, Carlo;
Orlandi, Maurizia;
Papoff, Paola;
Spalice, Alberto;
Burlina, Alberto;
Meo, Ivano;
Tiranti, Valeria;
Leuzzi, Vincenzo;
d'Amati, Giulia;
Zeviani, Massimo

Publication type:

Article

Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB1 alleles causing G-gangliosidosis and Morquio B disease.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 495, doi. 10.1007/s10545-011-9409-2

By:

Fantur, Katrin;
Wrodnigg, Tanja;
Stütz, Arnold;
Pabst, Bettina;
Paschke, Eduard

Publication type:

Article

Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 469, doi. 10.1007/s10545-011-9407-4

By:

Hnízda, Aleš;
Jurga, Vojtěch;
Raková, Kateřina;
Kožich, Viktor

Publication type:

Article

Bone development in children and adolescents with PKU.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 425, doi. 10.1007/s10545-011-9412-7

By:

Mendes, A.;
Martins, F.;
Cruz, W.;
Silva, L.;
Abadesso, C.B.M.;
Boaventura, G.T.

Publication type:

Article

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 459, doi. 10.1007/s10545-011-9413-6

By:

Glamuzina, Emma;
Brown, Ruth;
Hogarth, Kieran;
Saunders, Dawn;
Russell-Eggitt, Isabelle;
Pitt, Matthew;
Sousa, Carlos;
Rahman, Shamima;
Brown, Garry;
Grunewald, Stephanie

Publication type:

Article

Bile acid-CoA ligase deficiency-a new inborn error of bile acid metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 521, doi. 10.1007/s10545-011-9416-3

By:

Chong, Catherine;
Mills, Philippa;
McClean, Patricia;
Gissen, Paul;
Bruce, Christopher;
Stahlschmidt, Jens;
Knisely, A.;
Clayton, Peter

Publication type:

Article

Oxidative stress in Phenylketonuria: future directions.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 381, doi. 10.1007/s10545-011-9417-2

By:

Rocha, Júlio;
Martins, Maria

Publication type:

Article

Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 399, doi. 10.1007/s10545-011-9425-2

By:

Binkhorst, M.;
Wortmann, S.;
Funke, S.;
Kozicz, T.;
Wevers, R.;
Morava, E.

Publication type:

Article

Decreased serum antioxidant capacity in patients with Wilson disease is associated with neurological symptoms.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 541, doi. 10.1007/s10545-011-9422-5

By:

Bruha, Radan;
Vitek, Libor;
Marecek, Zdenek;
Pospisilova, Lenka;
Nevsimalova, Sona;
Martasek, Pavel;
Petrtyl, Jaromir;
Urbanek, Petr;
Jiraskova, Alena;
Malikova, Ivana;
Haluzik, Martin;
Ferenci, Peter

Publication type:

Article

Females experience a more severe disease course in batten disease.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 549, doi. 10.1007/s10545-011-9421-6

By:

Cialone, Jennifer;
Adams, Heather;
Augustine, Erika;
Marshall, Frederick;
Kwon, Jennifer;
Newhouse, Nicole;
Vierhile, Amy;
Levy, Erika;
Dure, Leon;
Rose, Katherine;
Ramirez-Montealegre, Denia;
Blieck, Elisabeth;
Mink, Jonathan

Publication type:

Article

Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 513, doi. 10.1007/s10545-011-9424-3

By:

Porto, Caterina;
Pisani, Antonio;
Rosa, Margherita;
Acampora, Emma;
Avolio, Valeria;
Tuzzi, Maria;
Visciano, Bianca;
Gagliardo, Cristina;
Materazzi, Serena;
Marca, Giancarlo;
Andria, Generoso;
Parenti, Giancarlo

Publication type:

Article

Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria.

Published in:

2012

By:

Doimo, Mara;
Trevisson, Eva;
Sartori, Geppo;
Burlina, Alberto;
Salviati, Leonardo

Publication type:

Letter

Erratum to: Females experience a more severe disease course in batten disease.

Published in:

2012

By:

Cialone, Jennifer;
Adams, Heather;
Augustine, Erika;
Marshall, Frederick;
Kwon, Jennifer;
Newhouse, Nicole;
Vierhile, Amy;
Levy, Erika;
Dure, Leon;
Rose, Katherine;
Ramirez-Montealegre, Denia;
Blieck, Elisabeth;
Mink, Jonathan

Publication type:

Correction Notice

Wernicke-like encephalopathy during classic maple syrup urine disease decompensation.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 413, doi. 10.1007/s10545-012-9456-3

By:

Manara, R.;
Rizzo, M.;
Burlina, A.;
Bordugo, A.;
Citton, V.;
Rodriguez-Pombo, P.;
Ugarte, M.

Publication type:

Article

Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 443, doi. 10.1007/s10545-011-9423-4

By:

Luís, Paula;
Ruiter, Jos;
IJlst, Lodewijk;
Diogo, Luísa;
Garcia, Paula;
Almeida, Isabel;
Duran, Marinus;
Wanders, Ronald;
Silva, Margarida

Publication type:

Article