Works matching IS 01418955 AND DT 2015 AND VI 38

Results: 131

Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1085, doi. 10.1007/s10545-015-9849-1

By:

Casey, Jillian;
Slattery, Suzanne;
Cotter, Melanie;
Monavari, A.;
Knerr, Ina;
Hughes, Joanne;
Treacy, Eileen;
Devaney, Deirdre;
McDermott, Michael;
Laffan, Eoghan;
Wong, Derek;
Lynch, Sally;
Bourke, Billy;
Crushell, Ellen

Publication type:

Article

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1059, doi. 10.1007/s10545-015-9840-x

By:

Kölker, Stefan;
Valayannopoulos, Vassili;
Burlina, Alberto;
Sykut-Cegielska, Jolanta;
Wijburg, Frits;
Teles, Elisa;
Zeman, Jiri;
Dionisi-Vici, Carlo;
Barić, Ivo;
Karall, Daniela;
Arnoux, Jean-Baptiste;
Avram, Paula;
Baumgartner, Matthias;
Blasco-Alonso, Javier;
Boy, S.;
Rasmussen, Marlene;
Burgard, Peter;
Chabrol, Brigitte;
Chakrapani, Anupam;
Chapman, Kimberly

Publication type:

Article

Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1029, doi. 10.1007/s10545-015-9843-7

By:

Miller, Marcus;
Kennedy, Adam;
Eckhart, Andrea;
Burrage, Lindsay;
Wulff, Jacob;
Miller, Luke;
Milburn, Michael;
Ryals, John;
Beaudet, Arthur;
Sun, Qin;
Sutton, V.;
Elsea, Sarah

Publication type:

Article

A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1129, doi. 10.1007/s10545-015-9845-5

By:

Schiffmann, Raphael;
Swift, Caren;
Wang, Xuan;
Blankenship, Derek;
Ries, Markus

Publication type:

Article

Secondary NAD deficiency in the inherited defect of glutamine synthetase.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1075, doi. 10.1007/s10545-015-9846-4

By:

Hu, Liyan;
Ibrahim, Khalid;
Stucki, Martin;
Frapolli, Michele;
Shahbeck, Noora;
Chaudhry, Farrukh;
Görg, Boris;
Häussinger, Dieter;
Penberthy, W.;
Ben-Omran, Tawfeg;
Häberle, Johannes

Publication type:

Article

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1041, doi. 10.1007/s10545-015-9839-3

By:

Kölker, Stefan;
Cazorla, Angeles;
Valayannopoulos, Vassili;
Lund, Allan;
Burlina, Alberto;
Sykut-Cegielska, Jolanta;
Wijburg, Frits;
Teles, Elisa;
Zeman, Jiri;
Dionisi-Vici, Carlo;
Barić, Ivo;
Karall, Daniela;
Augoustides-Savvopoulou, Persephone;
Aksglaede, Lise;
Arnoux, Jean-Baptiste;
Avram, Paula;
Baumgartner, Matthias;
Blasco-Alonso, Javier;
Chabrol, Brigitte;
Chakrapani, Anupam

Publication type:

Article

Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1109, doi. 10.1007/s10545-015-9854-4

By:

Torres, R.;
Puig, J.

Publication type:

Article

Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1099, doi. 10.1007/s10545-015-9856-2

By:

Haliloglu, Goknur;
Talim, Beril;
Sel, Cigdem;
Topaloglu, Haluk

Publication type:

Article

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1147, doi. 10.1007/s10545-015-9857-1

By:

Debray, François-Guillaume;
Stümpfig, Claudia;
Vanlander, Arnaud;
Dideberg, Vinciane;
Josse, Claire;
Caberg, Jean-Hubert;
Boemer, François;
Bours, Vincent;
Stevens, René;
Seneca, Sara;
Smet, Joél;
Lill, Roland;
Coster, Rudy

Publication type:

Article

Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1119, doi. 10.1007/s10545-015-9862-4

By:

Borgwardt, L.;
Thuesen, A.;
Olsen, K.;
Fogh, J.;
Dali, C.;
Lund, A.

Publication type:

Article

Disturbance of redox homeostasis as a contributing underlying pathomechanism of brain and liver alterations in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1021, doi. 10.1007/s10545-015-9863-3

By:

Leipnitz, Guilhian;
Vargas, Carmen;
Wajner, Moacir

Publication type:

Article

Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1093, doi. 10.1007/s10545-015-9864-2

By:

Hochuli, Michel;
Christ, Emanuel;
Meienberg, Fabian;
Lehmann, Roger;
Krützfeldt, Jan;
Baumgartner, Matthias

Publication type:

Article

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Published in:

2015

By:

Kölker, Stefan;
Cazorla, Angeles;
Valayannopoulos, Vassili;
Lund, Allan;
Burlina, Alberto;
Sykut-Cegielska, Jolanta;
Wijburg, Frits;
Teles, Elisa;
Zeman, Jiri;
Dionisi-Vici, Carlo;
Barić, Ivo;
Karall, Daniela;
Augoustides-Savvopoulou, Persephone;
Aksglaede, Lise;
Arnoux, Jean-Baptiste;
Avram, Paula;
Baumgartner, Matthias;
Blasco-Alonso, Javier;
Chabrol, Brigitte;
Chakrapani, Anupam

Publication type:

Erratum

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Published in:

2015

By:

Kölker, Stefan;
Valayannopoulos, Vassili;
Burlina, Alberto;
Sykut-Cegielska, Jolanta;
Wijburg, Frits;
Teles, Elisa;
Zeman, Jiri;
Dionisi-Vici, Carlo;
Barić, Ivo;
Karall, Daniela;
Arnoux, Jean-Baptiste;
Avram, Paula;
Baumgartner, Matthias;
Blasco-Alonso, Javier;
Boy, S.;
Rasmussen, Marlene;
Burgard, Peter;
Chabrol, Brigitte;
Chakrapani, Anupam;
Chapman, Kimberly

Publication type:

Erratum

Lack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non-canonical Wnt5a/Ror2 signalling.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1137, doi. 10.1007/s10545-015-9874-0

By:

Himmelreich, Nastassja;
Kaufmann, Lilian;
Steinbeisser, Herbert;
Körner, Christian;
Thiel, Christian

Publication type:

Article

Elisabeth Holme.

Published in:

2015

By:

Kollberg, Gittan;
Clayton, Peter

Publication type:

Editorial

Quo vadis: the re-definition of 'inborn metabolic diseases'.

Published in:

2015

By:

Morava, Eva;
Rahman, Shamima;
Peters, Verena;
Baumgartner, Matthias;
Patterson, Marc;
Zschocke, Johannes

Publication type:

Editorial

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1007, doi. 10.1007/s10545-015-9830-z

By:

Huemer, Martina;
Kožich, Viktor;
Rinaldo, Piero;
Baumgartner, Matthias;
Merinero, Begoña;
Pasquini, Elisabetta;
Ribes, Antonia;
Blom, Henk

Publication type:

Article

SSIEM Author Index for the Abstracts for the Annual Symposium, Lyon, France, 1-4 September 2015.

Published in:: Journal of Inherited Metabolic Disease, 2015, v. 38, p. 379, doi. 10.1007/s10545-015-9878-9
Publication type:: Article

SSIEM 2015 Annual Symposium.

Published in:: Journal of Inherited Metabolic Disease, 2015, v. 38, p. 1, doi. 10.1007/s10545-015-9879-8
Publication type:: Article

SSIEM 2015 Annual Symposium.

Published in:: Journal of Inherited Metabolic Disease, 2015, v. 38, p. 35, doi. 10.1007/s10545-015-9877-x
Publication type:: Article

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

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

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

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

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

Signal transduction in inherited metabolic disorders: a model for a possible pathogenetic mechanism.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 4, p. 729, doi. 10.1007/s10545-015-9820-1

By:

Boneh, Avihu

Publication type:

Article

Enzyme complexity in intermediary metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 4, p. 721, doi. 10.1007/s10545-015-9821-0

By:

Van Schaftingen, Emile;
Veiga-da-Cunha, Maria;
Linster, Carole

Publication type:

Article

Acute rhabdomyolysis and inflammation.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 4, p. 621, doi. 10.1007/s10545-015-9827-7

By:

Hamel, Yamina;
Mamoune, Asmaa;
Mauvais, François-Xavier;
Habarou, Florence;
Lallement, Laetitia;
Romero, Norma;
Ottolenghi, Chris;
Lonlay, Pascale

Publication type:

Article