Works matching IS 01418955 AND DT 2015 AND VI 38 AND IP 5

Results: 26

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 957, doi. 10.1007/s10545-014-9803-7

By:

Huemer, M.;
Bürer, C.;
Ješina, P.;
Kožich, V.;
Landolt, M.;
Suormala, T.;
Fowler, B.;
Augoustides- Savvopoulou, P.;
Blair, E.;
Brennerova, K.;
Broomfield, A.;
Meirleir, L.;
Gökcay, G.;
Hennermann, J.;
Jardine, P.;
Koch, J.;
Lorenzl, S.;
Lotz-Havla, A.;
Noss, J.;
Parini, R.

Publication type:

Article

Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 881, doi. 10.1007/s10545-014-9804-6

By:

Lebigot, Elise;
Brassier, Anaïs;
Zater, Mokhtar;
Imanci, Dilek;
Feillet, François;
Thérond, Patrice;
Lonlay, Pascale;
Boutron, Audrey

Publication type:

Article

Enlarging brain xanthomas in a patient with cerebrotendinous xanthomatosis.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 981, doi. 10.1007/s10545-014-9805-5

By:

Brienza, M.;
Fiermonte, G.;
Cambieri, C.;
Mignarri, A.;
Dotti, M.;
Fiorelli, M.

Publication type:

Article

The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 969, doi. 10.1007/s10545-014-9806-4

By:

Caterino, Marianna;
Pastore, Anna;
Strozziero, Maria;
Giovamberardino, Gianna;
Imperlini, Esther;
Scolamiero, Emanuela;
Ingenito, Laura;
Boenzi, Sara;
Ceravolo, Ferdinando;
Martinelli, Diego;
Dionisi-Vici, Carlo;
Ruoppolo, Margherita

Publication type:

Article

Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 815, doi. 10.1007/s10545-014-9807-3

By:

Hu, Liyan;
Pandey, Amit;
Balmer, Cécile;
Eggimann, Sandra;
Rüfenacht, Véronique;
Nuoffer, Jean-Marc;
Häberle, Johannes

Publication type:

Article

Differential inhibition of PDKs by phenylbutyrate and enhancement of pyruvate dehydrogenase complex activity by combination with dichloroacetate.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 895, doi. 10.1007/s10545-014-9808-2

By:

Ferriero, Rosa;
Iannuzzi, Clara;
Manco, Giuseppe;
Brunetti-Pierri, Nicola

Publication type:

Article

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 889, doi. 10.1007/s10545-014-9809-1

By:

Wamelink, Mirjam;
Ramos, Ruben;
Elzen, Annette;
Ruijter, George;
Bonte, Ramon;
Diogo, Luisa;
Garcia, Paula;
Neves, Nelson;
Nota, Benjamin;
Haschemi, Arvand;
Tavares de Almeida, Isabel;
Salomons, Gajja

Publication type:

Article

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 863, doi. 10.1007/s10545-015-9810-3

By:

Burda, P.;
Kuster, A.;
Hjalmarson, O.;
Suormala, T.;
Bürer, C.;
Lutz, S.;
Roussey, G.;
Christa, L.;
Asin-Cayuela, J.;
Kollberg, G.;
Andersson, B.;
Watkins, D.;
Rosenblatt, D.;
Fowler, B.;
Holme, E.;
Froese, D.;
Baumgartner, M.

Publication type:

Article

Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 983, doi. 10.1007/s10545-015-9812-1

By:

Drenckhahn, Anne;
Schuelke, Markus;
Knierim, Ellen

Publication type:

Article

Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 855, doi. 10.1007/s10545-015-9814-z

By:

Wang, X.;
Li, C.;
Xing, Y.;
Yang, Y.;
Jia, J.

Publication type:

Article

A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 931, doi. 10.1007/s10545-015-9828-6

By:

Dörre, K.;
Olczak, M.;
Wada, Y.;
Sosicka, P.;
Grüneberg, M.;
Reunert, J.;
Kurlemann, G.;
Fiedler, B.;
Biskup, S.;
Hörtnagel, K.;
Rust, S.;
Marquardt, T.

Publication type:

Article

Propofol administration in patients with methylmalonic acidemia and intracellular cobalamin metabolism disorders: a review of theoretical concerns and clinical experiences in 28 patients.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 847, doi. 10.1007/s10545-015-9816-x

By:

Ktena, Yiouli;
Ramstad, Trygg;
Baker, Eva;
Sloan, Jennifer;
Mannes, Andrew;
Manoli, Irini;
Venditti, Charles

Publication type:

Article

Measurement of psychosine in dried blood spots - a possible improvement to newborn screening programs for Krabbe disease.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 923, doi. 10.1007/s10545-015-9822-z

By:

Turgeon, Coleman;
Orsini, Joseph;
Sanders, Karen;
Magera, Mark;
Langan, Thomas;
Escolar, Maria;
Duffner, Patricia;
Oglesbee, Devin;
Gavrilov, Dimitar;
Tortorelli, Silvia;
Rinaldo, Piero;
Raymond, Kimiyo;
Matern, Dietrich

Publication type:

Article

Loss of function mutation in glutamic pyruvate transaminase 2 ( GPT2) causes developmental encephalopathy.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 941, doi. 10.1007/s10545-015-9824-x

By:

Celis, Katrina;
Shuldiner, Scott;
Haverfield, Eden;
Cappell, Joshua;
Yang, Rongze;
Gong, Da-Wei;
Chung, Wendy

Publication type:

Article

H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 829, doi. 10.1007/s10545-015-9826-8

By:

Harting, Inga;
Boy, Nikolas;
Heringer, Jana;
Seitz, Angelika;
Bendszus, Martin;
Pouwels, Petra;
Kölker, Stefan

Publication type:

Article

Bone demineralisation in a large cohort of Wilson disease patients.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 949, doi. 10.1007/s10545-015-9815-y

By:

Weiss, Karl;
Moortele, Mart;
Gotthardt, Daniel;
Pfeiffenberger, Jan;
Seeßle, Jessica;
Ullrich, Elena;
Gielen, Evelien;
Borghs, Herman;
Adriaens, Els;
Stremmel, Wolfgang;
Meersseman, Wouter;
Boonen, Steven;
Cassiman, David

Publication type:

Article

Homogentisate 1,2 dioxygenase is expressed in brain: implications in alkaptonuria.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 807, doi. 10.1007/s10545-015-9829-5

By:

Bernardini, Giulia;
Laschi, Marcella;
Geminiani, Michela;
Braconi, Daniela;
Vannuccini, Elisa;
Lupetti, Pietro;
Manetti, Fabrizio;
Millucci, Lia;
Santucci, Annalisa

Publication type:

Article

Endurance training ameliorates complex 3 deficiency in a mouse model of Barth syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 915, doi. 10.1007/s10545-015-9834-8

By:

Soustek, Meghan;
Baligand, Celine;
Falk, Darin;
Walter, Glenn;
Lewin, Alfred;
Byrne, Barry

Publication type:

Article

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 905, doi. 10.1007/s10545-015-9836-6

By:

Huemer, Martina;
Karall, Daniela;
Schossig, Anna;
Abdenur, Jose;
Jasmi, Fatma;
Biagosch, Caroline;
Distelmaier, Felix;
Freisinger, Peter;
Graham, Brett;
Haack, Tobias;
Hauser, Natalie;
Hertecant, Jozef;
Ebrahimi-Fakhari, Darius;
Konstantopoulou, Vassiliki;
Leydiker, Karen;
Lourenco, Charles;
Scholl-Bürgi, Sabine;
Wilichowski, Ekkehard;
Wolf, Nicole;
Wortmann, Saskia

Publication type:

Article

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 873, doi. 10.1007/s10545-015-9841-9

By:

Hagen, Jacob;
Brinke, Heleen;
Wanders, Ronald;
Knegt, Alida;
Oussoren, Esmee;
Hoogeboom, A.;
Ruijter, George;
Becker, Daniel;
Schwab, Karl;
Franke, Ingo;
Duran, Marinus;
Waterham, Hans;
Sass, Jörn;
Houten, Sander

Publication type:

Article

Amyloidosis in alkaptonuria.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 797, doi. 10.1007/s10545-015-9842-8

By:

Millucci, Lia;
Braconi, Daniela;
Bernardini, Giulia;
Lupetti, Pietro;
Rovensky, Josef;
Ranganath, Lakshminaryan;
Santucci, Annalisa

Publication type:

Article

Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 791, doi. 10.1007/s10545-015-9844-6

By:

Arnoux, Jean-Baptiste;
Le Quan Sang, Kim-Hanh;
Brassier, Anais;
Grisel, Coraline;
Servais, Aude;
Wippf, Julien;
Dubois, Sandrine;
Sireau, Nicolas;
Job-Deslandre, Chantal;
Ranganath, Lakshminarayan;
de Lonlay, Pascale

Publication type:

Article

Determination of amylose/amylopectin ratio of starches.

Published in:

2015

By:

Nalin, Tatiéle;
Sperb-Ludwig, Fernanda;
Venema, Koen;
Derks, Terry;
Schwartz, Ida

Publication type:

Editorial

Erratum to: In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases.

Published in:

2015

By:

Nalin, Tatiéle;
Venema, Koen;
Weinstein, David;
Souza, Carolina;
Perry, Ingrid;
Wandelen, Mario;
Rijn, Margreet;
Smit, G.;
Schwartz, Ida;
Derks, Terry

Publication type:

Erratum

Progress in Alkaptonuria - are we near to an effective therapy?

Published in:

2015

By:

Ranganath, L.;
Timmis, O.;
Gallagher, J.

Publication type:

Editorial

Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 839, doi. 10.1007/s10545-014-9802-8

By:

Raval, Donna;
Merideth, Melissa;
Sloan, Jennifer;
Braverman, Nancy;
Conway, Robert;
Manoli, Irini;
Venditti, Charles

Publication type:

Article