Works matching IS 01418955 AND DT 2011 AND VI 34

Results: 150

Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1199, doi. 10.1007/s10545-011-9332-6

By:

Filosto, Massimiliano;
Scarpelli, Mauro;
Tonin, Paola;
Testi, Silvia;
Cotelli, Maria;
Rossi, Mara;
Salvi, Andrea;
Grottolo, Alberto;
Vielmi, Valentina;
Todeschini, Alice;
Fabrizi, Gian;
Padovani, Alessandro;
Tomelleri, Giuliano

Publication type:

Article

Cardiovascular manifestations of Alkaptonuria.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1177, doi. 10.1007/s10545-011-9339-z

By:

Pettit, Stephen;
Fisher, Michael;
Gallagher, James;
Ranganath, Lakshminarayan

Publication type:

Article

Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1213, doi. 10.1007/s10545-011-9340-6

By:

Montioli, Riccardo;
Cellini, Barbara;
Borri Voltattorni, Carla

Publication type:

Article

Mitochondrial diabetes is associated with insulin resistance in subcutaneous adipose tissue but not with increased liver fat content.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1205, doi. 10.1007/s10545-011-9338-0

By:

Lindroos, Markus;
Borra, Ronald;
Mononen, Nina;
Lehtimäki, Terho;
Virtanen, Kirsi;
Lepomäki, Virva;
Guiducci, Letizia;
Iozzo, Patricia;
Majamaa, Kari;
Nuutila, Pirjo

Publication type:

Article

An update on molecular genetics of Alkaptonuria (AKU).

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1127, doi. 10.1007/s10545-011-9363-z

By:

Zatkova, Andrea

Publication type:

Article

Collagen atomic scale molecular disorder in ochronotic cartilage from an alkaptonuria patient, observed by solid state NMR.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1137, doi. 10.1007/s10545-011-9373-x

By:

Chow, Wing;
Taylor, Adam;
Reid, David;
Gallagher, James;
Duer, Melinda

Publication type:

Article

Alkaptonuria in France: past experience and lessons for the future.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1115, doi. 10.1007/s10545-011-9392-7

By:

Aquaron, Robert

Publication type:

Article

A quantitative assessment of alkaptonuria.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1153, doi. 10.1007/s10545-011-9367-8

By:

Cox, Trevor;
Ranganath, Lakshminarayan

Publication type:

Article

Natural history of alkaptonuria revisited: analyses based on scoring systems.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1141, doi. 10.1007/s10545-011-9374-9

By:

Ranganath, Lakshminarayan;
Cox, Trevor

Publication type:

Article

Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1225, doi. 10.1007/s10545-011-9376-7

By:

Biancheri, Roberta;
Bruno, Claudio;
Cassandrini, Denise;
Bertini, Enrico;
Santorelli, Filippo;
Rossi, Andrea

Publication type:

Article

Redox-proteomics of the effects of homogentisic acid in an in vitro human serum model of alkaptonuric ochronosis.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1163, doi. 10.1007/s10545-011-9377-6

By:

Braconi, Daniela;
Bianchini, Claretta;
Bernardini, Giulia;
Laschi, Marcella;
Millucci, Lia;
Spreafico, Adriano;
Santucci, Annalisa

Publication type:

Article

Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1183, doi. 10.1007/s10545-011-9359-8

By:

Braunlin, Elizabeth;
Harmatz, Paul;
Scarpa, Maurizio;
Furlanetto, Beatriz;
Kampmann, Christoph;
Loehr, James;
Ponder, Katherine;
Roberts, William;
Rosenfeld, Howard;
Giugliani, Roberto

Publication type:

Article

Alkaptonuria: treasure your exceptions.

Published in:

2011

By:

Cox, Timothy

Publication type:

Editorial

Erratum to: Isolated remethylation disorders: do our treatments benefit patients?

Published in:

2011

By:

Schiff, Manuel;
Benoist, Jean-François;
Tilea, Bogdana;
Royer, Nicolas;
Giraudier, Stéphane;
Baulny, Hélène

Publication type:

Correction Notice

Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1083, doi. 10.1007/s10545-011-9323-7

By:

Pérez-Poyato, María-Socorro;
Milà Recansens, Montserrat;
Ferrer Abizanda, Isidre;
Montero Sánchez, Raquel;
Rodríguez-Revenga, Laia;
Cusí Sánchez, Victoria;
García González, M.;
Domingo Jiménez, Rosario;
Camino León, Rafael;
Velázquez Fragua, Ramón;
Martínez-Bermejo, Antonio;
Pineda Marfà, Mercè

Publication type:

Article

Burden of illness of Pompe disease in patients only receiving supportive care.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1045, doi. 10.1007/s10545-011-9320-x

By:

Kanters, Tim;
Hagemans, Marloes;
Beek, Nadine;
Rutten, Frans;
Ploeg, Ans;
Hakkaart, Leona

Publication type:

Article

Proton nuclear magnetic resonance spectroscopic detection of oligomannosidic n glycans in alpha-mannosidosis: a method of monitoring treatment.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1023, doi. 10.1007/s10545-011-9331-7

By:

Avenarius, Derk;
Svendsen, John-Sigurd;
Malm, Dag

Publication type:

Article

Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1029, doi. 10.1007/s10545-011-9336-2

By:

Muñoz-Rojas, María;
Bay, Luisa;
Sanchez, Luz;
Kuijck, Marcel;
Ospina, Sandra;
Cabello, Juan;
Martins, Ana

Publication type:

Article

Genistein supplementation in patients affected by Sanfilippo disease.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1039, doi. 10.1007/s10545-011-9342-4

By:

Delgadillo, Verónica;
O'Callaghan, Maria del Mar;
Artuch, Rafael;
Montero, Raquel;
Pineda, Mercedes

Publication type:

Article

Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1075, doi. 10.1007/s10545-011-9346-0

By:

Cialone, Jennifer;
Augustine, Erika;
Newhouse, Nicole;
Adams, Heather;
Vierhile, Amy;
Marshall, Frederick;
Blieck, Elisabeth;
Kwon, Jennifer;
Rothberg, Paul;
Mink, Jonathan

Publication type:

Article

A complete deficiency of Hyaluronoglucosaminidase 1 ( HYAL1) presenting as familial juvenile idiopathic arthritis.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1013, doi. 10.1007/s10545-011-9343-3

By:

Imundo, Lisa;
LeDuc, Charles;
Guha, Saurav;
Brown, Marc;
Perino, Giorgio;
Gushulak, Lara;
Triggs-Raine, Barbara;
Chung, Wendy

Publication type:

Article

Emerging therapies for neurodegenerative lysosomal storage disorders - from concept to reality.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1003, doi. 10.1007/s10545-011-9341-5

By:

Hemsley, Kim;
Hopwood, John

Publication type:

Article

Thymic involution and corticosterone level in Sandhoff disease model mice: new aspects the pathogenesis of GM2 gangliosidosis.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1061, doi. 10.1007/s10545-011-9316-6

By:

Matsuoka, Kazuhiko;
Tsuji, Daisuke;
Taki, Takao;
Itoh, Kohji

Publication type:

Article

Cell microencapsulation: a potential tool for the treatment of neuronopathic lysosomal storage diseases.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 983, doi. 10.1007/s10545-011-9350-4

By:

Matte, Ursula;
Lagranha, Valeska;
Carvalho, Talita;
Mayer, Fabiana;
Giugliani, Roberto

Publication type:

Article

Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1069, doi. 10.1007/s10545-011-9351-3

By:

Bosch, Jeroen;
Oemardien, Linda;
Srebniak, Malgorzata;
Piraud, Monique;
Huijmans, Jan;
Verheijen, Frans;
Ruijter, George

Publication type:

Article

Synovium, synergy and serendipity.

Published in:

2011

By:

Pastores, Gregory

Publication type:

Editorial

Four-year follow-up of chronic neuronopathic Gaucher disease in Europeans using a modified severity scoring tool.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1053, doi. 10.1007/s10545-011-9347-z

By:

Davies, Elin;
Mengel, Eugen;
Tylki-Szymanska, Anna;
Kleinotiene, G.;
Reinke, Joerg;
Vellodi, Ashok

Publication type:

Article

Mouse models for congenital disorders of glycosylation.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 879, doi. 10.1007/s10545-011-9295-7

By:

Thiel, Christian;
Körner, Christian

Publication type:

Article

Gastrointestinal disturbances and their management in miglustat-treated patients.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 991, doi. 10.1007/s10545-011-9368-7

By:

Belmatoug, Nadia;
Burlina, Alberto;
Giraldo, Pilar;
Hendriksz, Chris;
Kuter, David;
Mengel, Eugen;
Pastores, Gregory

Publication type:

Article

The 7th ISNS European Neonatal Screening Regional Meeting.

Published in:: Journal of Inherited Metabolic Disease, 2011, v. 34, p. 17, doi. 10.1007/s10545-011-9362-0
Publication type:: Article

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism.

Published in:: Journal of Inherited Metabolic Disease, 2011, v. 34, p. S49, doi. 10.1007/s10545-011-9371-z
Publication type:: Article

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism.

Published in:: Journal of Inherited Metabolic Disease, 2011, v. 34, p. 49, doi. 10.1007/s10545-011-9371-z
Publication type:: Article

Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1095, doi. 10.1007/s10545-011-9361-1

By:

Groeschel, Samuel;
Kehrer, Christiane;
Engel, Corinna;
í Dali, Christine;
Bley, Annette;
Steinfeld, Robert;
Grodd, Wolfgang;
Krägeloh-Mann, Ingeborg

Publication type:

Article

From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 859, doi. 10.1007/s10545-011-9301-0

By:

Cantagrel, Vincent;
Lefeber, Dirk

Publication type:

Article

Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 853, doi. 10.1007/s10545-011-9299-3

By:

Jaeken, Jaak

Publication type:

Article

The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 891, doi. 10.1007/s10545-011-9306-8

By:

Sturiale, Luisa;
Barone, Rita;
Garozzo, Domenico

Publication type:

Article

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 901, doi. 10.1007/s10545-011-9311-y

By:

Guillard, Mailys;
Wada, Yoshinao;
Hansikova, Hana;
Yuasa, Isao;
Vesela, Katerina;
Ondruskova, Nina;
Kadoya, Machiko;
Janssen, Alice;
Heuvel, Lambertus;
Morava, Eva;
Zeman, Jiri;
Wevers, Ron;
Lefeber, Dirk

Publication type:

Article

Metabolic cutis laxa syndromes.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 907, doi. 10.1007/s10545-011-9305-9

By:

Mohamed, Miski;
Kouwenberg, Dorus;
Gardeitchik, Thatjana;
Kornak, Uwe;
Wevers, Ron;
Morava, Eva

Publication type:

Article

Clinical and molecular studies of EXT1/EXT2 in Bulgaria.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 917, doi. 10.1007/s10545-011-9314-8

By:

Stancheva-Ivanova, Malina;
Wuyts, Wim;
Hul, Els;
Radeva, Briguita;
Vazharova, Radoslava;
Sokolov, Todor;
Vladimirov, Borislav;
Apostolova, Margarita;
Kremensky, Ivo

Publication type:

Article

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 923, doi. 10.1007/s10545-011-9325-5

By:

Achouitar, Samira;
Mohamed, Miski;
Gardeitchik, Thatjana;
Wortmann, Saskia;
Sykut-Cegielska, Jolanta;
Ensenauer, Regina;
Baulny, Hélène;
Õunap, Katrin;
Martinelli, Diego;
Vries, Maaike;
McFarland, Robert;
Kouwenberg, Dorus;
Theodore, Miranda;
Wijburg, Frits;
Grünewald, Stephanie;
Jaeken, Jaak;
Wevers, Ron;
Nijtmans, Leo;
Elson, Joanna;
Morava, Eva

Publication type:

Article

Pre-attentive processing in children with early and continuously-treated PKU. Effects of concurrent Phe level and lifetime dietary control.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 953, doi. 10.1007/s10545-011-9321-9

By:

Sonneville, Leo;
Huijbregts, Stephan;
Licht, Robert;
Sergeant, Joseph;
Spronsen, Francjan

Publication type:

Article

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG).

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 929, doi. 10.1007/s10545-011-9328-2

By:

Vega, Ana;
Pérez-Cerdá, Celia;
Abia, David;
Gámez, Alejandra;
Briones, Paz;
Artuch, Rafael;
Desviat, Lourdes;
Ugarte, Magdalena;
Pérez, Belén

Publication type:

Article

Mitochondrial DNA transcription regulation and nucleoid organization.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 941, doi. 10.1007/s10545-011-9330-8

By:

Rebelo, Adriana;
Dillon, Lloye;
Moraes, Carlos

Publication type:

Article

Correlation of age-specific phenylalanine levels with intellectual outcome in patients with phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 963, doi. 10.1007/s10545-011-9329-1

By:

Viau, Krista;
Wengreen, Heidi;
Ernst, Sharon;
Cantor, Nancy;
Furtado, Larissa;
Longo, Nicola

Publication type:

Article

Oligosaccharyltransferase: the central enzyme of N-linked protein glycosylation.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 869, doi. 10.1007/s10545-011-9337-1

By:

Mohorko, Elisabeth;
Glockshuber, Rudi;
Aebi, Markus

Publication type:

Article

CDG - an update.

Published in:

2011

By:

Morava, Eva;
Lefeber, Dirk

Publication type:

Editorial

How to find and diagnose a CDG due to defective N-glycosylation.

Published in:

2011

By:

Lefeber, Dirk;
Morava, Eva;
Jaeken, Jaak

Publication type:

Editorial

The 7th ISNS European Neonatal Screening Regional Meeting.

Published in:: Journal of Inherited Metabolic Disease, 2011, v. 34, p. 17, doi. 10.1007/s10545-011-9362-0
Publication type:: Article

Complex III staining in blue native polyacrylamide gels.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 741, doi. 10.1007/s10545-011-9315-7

By:

Smet, Joél;
Paepe, Boel;
Seneca, Sara;
Lissens, Willy;
Kotarsky, Heike;
Meirleir, Linda;
Fellman, Vineta;
Coster, Rudy

Publication type:

Article

Disorders of bile acid synthesis.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 593, doi. 10.1007/s10545-010-9259-3

By:

Clayton, Peter

Publication type:

Article