Works matching IS 01418955 AND DT 2010 AND VI 33

Results: 210

Docosahexaenoic acid status in females of reproductive age with maple syrup urine disease.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 2, p. 121, doi. 10.1007/s10545-010-9066-x

By:

Mazer, Laura;
Yi, Sarah;
Singh, Rani

Publication type:

Article

The biochemical basis of hereditary fructose intolerance.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 2, p. 105, doi. 10.1007/s10545-010-9053-2

By:

Bouteldja, Nadia;
Timson, David

Publication type:

Article

Serum MIP-1 α level: a biomarker for the follow-up of lentiviral therapy in mucopolysaccharidosis IIIB mice.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 2, p. 159, doi. 10.1007/s10545-010-9051-4

By:

Di Natale, Paola;
Di Domenico, Carmela;
Di Napoli, Daniele

Publication type:

Article

The risk of Parkinson’s disease in type 1 Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 2, p. 167, doi. 10.1007/s10545-010-9055-0

By:

Bultron, Gilberto;
Kacena, Katherine;
Pearson, Daniel;
Boxer, Michael;
Yang, Ruhua;
Sathe, Swati;
Pastores, Gregory;
Mistry, Pramod

Publication type:

Article

Efficacy of recombinant human α- L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 2, p. 151, doi. 10.1007/s10545-010-9059-9

By:

Tylki-Szymanska, Anna;
Marucha, Jolanta;
Jurecka, Agnieszka;
Syczewska, Malgorzata;
Czartoryska, Barbara

Publication type:

Article

Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 2, p. 141, doi. 10.1007/s10545-009-9036-3

By:

Tomatsu, Shunji;
Montaño, Adriana;
Oguma, Toshihiro;
Dung, Vu;
Oikawa, Hirotaka;
Carvalho, Talita;
Gutiérrez, María;
Yamaguchi, Seiji;
Suzuki, Yasuyuki;
Fukushi, Masaru;
Sakura, Nobuo;
Barrera, Luis;
Kida, Kazuhiro;
Kubota, Mitsuru;
Orii, Tadao

Publication type:

Article

Diet and visually significant cataracts in galactosaemia: is regular follow up necessary?

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 2, p. 129, doi. 10.1007/s10545-009-9042-5

By:

Widger, John;
O’Toole, Jennifer;
Geoghegan, Olivia;
O’Keefe, Micheal;
Manning, Rosemarie

Publication type:

Article

Oligodendrocyte development and myelinogenesis are not impaired by high concentrations of phenylalanine or its metabolites.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 2, p. 113, doi. 10.1007/s10545-010-9052-3

By:

Schoemans, Renaud;
Aigrot, Marie-Stéphane;
Wu, Chaohong;
Marée, Raphaël;
Hong, Pengyu;
Belachew, Shibeshi;
Josse, Claire;
Lubetzki, Catherine;
Bours, Vincent

Publication type:

Article

PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 2, p. 133, doi. 10.1007/s10545-009-9027-4

By:

Hagemans, Marloes;
Stigter, Rolinda;
Capelle, Carine;
Beek, Nadine;
Winkel, Leon;
Vliet, Laura;
Hop, Wim;
Reuser, Arnold;
Beishuizen, Auke;
Ploeg, Ans

Publication type:

Article

Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients.

Published in:

2010

By:

Õunap, Katrin;
Joost, Kairit;
Temberg, Triinu;
Krabbi, Külliki;
Tõnisson, Neeme

Publication type:

Letter

Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 61, doi. 10.1007/s10545-009-9029-2

By:

Arfi, Audrey;
Richard, Magali;
Gandolphe, Christelle;
Scherman, Daniel

Publication type:

Article

Disease severity in sibling pairs with type 1 Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 79, doi. 10.1007/s10545-009-9024-7

By:

Elstein, Deborah;
Gellman, Ayelet;
Altarescu, Gheona;
Abrahamov, Aya;
Hadas-Halpern, Irith;
Phillips, Mici;
Margalit, Maya;
Lebel, Ehud;
Itzchaki, Menachem;
Zimran, Ari

Publication type:

Article

Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 1, doi. 10.1007/s10545-009-9004-y

By:

Sempere, Angela;
Arias, Angela;
Farré, Guillermo;
García-Villoria, Judith;
Rodríguez-Pombo, Pilar;
Desviat, Lurdes;
Merinero, Begoña;
García-Cazorla, Angels;
Vilaseca, Maria;
Ribes, Antonia;
Artuch, Rafael;
Campistol, Jaume

Publication type:

Article

Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 33, doi. 10.1007/s10545-009-9008-7

By:

Coffee, Erin;
Yerkes, Laura;
Ewen, Elizabeth;
Zee, Tiffany;
Tolan, Dean

Publication type:

Article

Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 69, doi. 10.1007/s10545-009-9018-5

By:

Hůlková, Helena;
Poupětová, Helena;
Harzer, Klaus;
Mistry, Pramod;
Aerts, Johannes;
Elleder, Milan

Publication type:

Article

A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 85, doi. 10.1007/s10545-009-9022-9

By:

Tsuji, Megumi;
Aida, Noriko;
Obata, Takayuki;
Tomiyasu, Moyoko;
Furuya, Noritaka;
Kurosawa, Kenji;
Errami, Abdellatif;
Gibson, K.;
Salomons, Gajja;
Jakobs, Cornelis;
Osaka, Hitoshi

Publication type:

Article

A novel mutation in LMBRD1 causes the cblF defect of vitamin B<sub>12</sub> metabolism in a Turkish patient.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 17, doi. 10.1007/s10545-009-9032-7

By:

Gailus, Susann;
Suormala, Terttu;
Malerczyk-Aktas, Ayse;
Toliat, Mohammad;
Wittkampf, Tanja;
Stucki, Martin;
Nürnberg, Peter;
Fowler, Brian;
Hennermann, Julia;
Rutsch, Frank

Publication type:

Article

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 51, doi. 10.1007/s10545-009-9007-8

By:

Harmatz, Paul;
Yu, Zi-Fan;
Giugliani, Roberto;
Schwartz, Ida;
Guffon, Nathalie;
Teles, Elisa;
Miranda, M.;
Wraith, J.;
Beck, Michael;
Arash, Laila;
Scarpa, Maurizio;
Ketteridge, David;
Hopwood, John;
Plecko, Barbara;
Steiner, Robert;
Whitley, Chester;
Kaplan, Paige;
Swiedler, Stuart;
Hardy, Karen;
Berger, Kenneth

Publication type:

Article

Erratum to: Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias.

Published in:

2010

By:

Sauer, S.;
Opp, S.;
Haarmann, A.;
Okun, J.;
Kölker, S.;
Morath, M.

Publication type:

Correction Notice

Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes—possibility for newborn screening.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 43, doi. 10.1007/s10545-009-9003-z

By:

Lukacs, Zoltan;
Nieves Cobos, Paulina;
Mengel, Eugen;
Hartung, Ralf;
Beck, Michael;
Deschauer, Marcus;
Keil, Angelika;
Santer, René

Publication type:

Article

A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 25, doi. 10.1007/s10545-009-9030-9

By:

Huidekoper, Hidde;
Visser, Gepke;
Ackermans, Mariëtte;
Sauerwein, Hans;
Wijburg, Frits

Publication type:

Article

Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 9, doi. 10.1007/s10545-009-9002-0

By:

Nielsen, Jytte;
Nielsen, Karin;
Güttler, Flemming

Publication type:

Article

Tumoral calcinosis.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 91, doi. 10.1007/s10545-009-9019-4

By:

Janssen, Mirian;
Sévaux, Ruud

Publication type:

Article

Maternal and fetal tyrosinemia type I.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 507, doi. 10.1007/s10545-012-9569-8

By:

Garcia Segarra, N.;
Roche, S.;
Imbard, A.;
Benoist, J. F.;
Grenèche, M. O.;
Davit‐Spraul, A.;
Ogier de Baulny, H.

Publication type:

Article

Neonatal cholestasis: an uncommon presentation of hyperargininemia.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 503, doi. 10.1007/s10545-010-9263-7

By:

Gomes Martins, Esmeralda;
Santos Silva, Ermelinda;
Vilarinho, Silvia;
Saudubray, Jean Marie;
Vilarinho, Laura

Publication type:

Article

Seizures and stupor during intravenous mannose therapy in a patient with CDG syndrome type 1b (MPI‐CDG).

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 497, doi. 10.1007/s10545-010-9252-x

By:

Schroeder, A. Sebastian;
Kappler, Matthias;
Bonfert, Michaela;
Borggraefe, Ingo;
Schoen, Carola;
Reiter, Karl

Publication type:

Article

Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 489, doi. 10.1007/s10545-010-9248-6

By:

Chew, Hui Bein;
Ngu, Lock Hock;
Zabedah, Md Yunus;
Keng, Wee Teik;
Balasubramaniam, Shanti;
Hanifah, Mohd Jamil M.;
Kobayashi, Keiko

Publication type:

Article

Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II‐III deficiency in liver and muscle.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 481, doi. 10.1007/s10545-010-9246-8

By:

Wolfe, Lynne A.;
He, Miao;
Vockley, Jerry;
Payne, Nicole;
Rhead, William;
Hoppel, Charles;
Spector, Elaine;
Gernert, Kim;
Gibson, K. Michael

Publication type:

Article

Klüver Bucy syndrome following hypoglycaemic coma in a patient with glycogen storage disease type Ib.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 477, doi. 10.1007/s10545-010-9243-y

By:

Boudjemline, Alix Mollet;
Isapof, Arnaud;
Witas, Jean‐Bernard;
Petit, François M.;
Gajdos, Vincent;
Labrune, Philippe

Publication type:

Article

Haematopoietic stem cell transplantation does not retard disease progression in the psycho‐cognitive variant of late‐onset metachromatic leukodystrophy.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 471, doi. 10.1007/s10545-010-9240-1

By:

Smith, Nicholas J.;
Marcus, Robert E.;
Sahakian, Barbara J.;
Kapur, Narinder;
Cox, Timothy M.

Publication type:

Article

Exacerbation of erythropoietic protoporphyria by hyperthyroidism.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 465, doi. 10.1007/s10545-010-9234-z

By:

Minder, Elisabeth I.;
Haldemann, Andreas R.;
Schneider‐Yin, Xiaoye

Publication type:

Article

Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 455, doi. 10.1007/s10545-010-9228-x

By:

Paradisi, Irene;
Arias, Sergio

Publication type:

Article

Multiple sources of metabolic disturbance in ETHE1‐related ethylmalonic encephalopathy.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 443, doi. 10.1007/s10545-010-9227-y

By:

Barth, Magalie;
Ottolenghi, Chris;
Hubert, Laurence;
Chrétien, Dominique;
Serre, Valérie;
Gobin, Stéphanie;
Romano, Stéphane;
Vassault, Anne;
Sefiani, Aziz;
Ricquier, Daniel;
Boddaert, Nathalie;
Brivet, Michèle;
de Keyzer, Yves;
Munnich, Arnold;
Duran, Marinus;
Rabier, Daniel;
Valayannopoulos, Vassili;
de Lonlay, Pascale

Publication type:

Article

Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 435, doi. 10.1007/s10545-010-9217-0

By:

Wang, Fei;
Han, Lianshu;
Yang, Yanling;
Gu, Xuefan;
Ye, Jun;
Qiu, Wenjuan;
Zhang, Huiwen;
Zhang, Yafen;
Gao, XiaoLan;
Wang, Yu

Publication type:

Article

Misdiagnosis of Niemann‐Pick disease type C as Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 429, doi. 10.1007/s10545-010-9214-3

By:

Lo, Sarah M.;
McNamara, Joseph;
Seashore, Margherita R.;
Mistry, Pramod K.

Publication type:

Article

Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 421, doi. 10.1007/s10545-010-9212-5

By:

Lin, Hsiang‐Yu;
Chen, Ming‐Ren;
Chuang, Chih‐Kuang;
Chen, Chih‐Ping;
Lin, Dar‐Shong;
Chien, Yin‐Hsiu;
Ke, Yu‐Yuan;
Tsai, Fuu‐Jen;
Pan, Hui‐Ping;
Lin, Shio‐Jean;
Hwu, Wuh‐Liang;
Niu, Dau‐Ming;
Lee, Ni‐Chung;
Lin, Shuan‐Pei

Publication type:

Article

Tyrosine monitoring in children with early and continuously treated phenylketonuria: results of an international practice survey.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 417, doi. 10.1007/s10545-010-9211-6

By:

Sharman, Rachael;
Sullivan, Karen A.;
Young, Ross McD.;
McGill, James J.

Publication type:

Article

Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 413, doi. 10.1007/s10545-010-9207-2

By:

de Groot, Martijn J.;
Cuppen, Marcel;
Eling, Marc;
Verheijen, Frans W.;
Rings, Edmond H. H. M.;
Reijngoud, Dirk‐Jan;
de Vries, Maaike M. C.;
van Spronsen, Francjan J.

Publication type:

Article

Treatment of cobalamin C (cblC) deficiency during pregnancy.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 409, doi. 10.1007/s10545-010-9202-7

By:

Brunel‐Guitton, Catherine;
Costa, Teresa;
Mitchell, Grant A.;
Lambert, Marie

Publication type:

Article

Chronological changes of the amplitude‐integrated EEG in a neonate with molybdenum cofactor deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 401, doi. 10.1007/s10545-010-9198-z

By:

Sie, Sintha D.;
de Jonge, Rogier C. J.;
Blom, Henk J.;
Mulder, Margot F.;
Reiss, Jochen;
Vermeulen, R. J.;
Peeters‐Scholte, Cacha M. P. C. D.

Publication type:

Article

Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II (Hunter Syndrome).

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 395, doi. 10.1007/s10545-010-9197-0

By:

Davison, James E.;
Hendriksz, Christian J.;
Sun, Yu;
Davies, Nigel P.;
Gissen, Paul;
Peet, Andrew C.

Publication type:

Article

Long‐term follow‐up results in enzyme replacement therapy for Pompe disease: a case report.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 389, doi. 10.1007/s10545-010-9195-2

By:

Del Rizzo, Monica;
Fanin, Marina;
Cerutti, Alessia;
Cazzorla, Chiara;
Milanesi, Ornella;
Nascimbeni, Anna Chiara;
Angelini, Corrado;
Giordano, Laura;
Bordugo, Andrea;
Burlina, Alberto B.

Publication type:

Article

Case report: long‐term outcome post‐heart transplantation in a woman with Fabry's disease.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 385, doi. 10.1007/s10545-010-9194-3

By:

Verocai, Flavia;
Clarke, Joe Thomas;
Iwanochko, Robert M.

Publication type:

Article

Dietary modifications in patients receiving miglustat.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 379, doi. 10.1007/s10545-010-9193-4

By:

Champion, H.;
Ramaswami, U.;
Imrie, J.;
Lachmann, R. H.;
Gallagher, J.;
Cox, T. M.;
Wraith, J. E.

Publication type:

Article

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency in Poland.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 373, doi. 10.1007/s10545-010-9190-7

By:

Piekutowska‐Abramczuk, Dorota;
Olsen, Rikke K. J.;
Wierzba, Jolanta;
Popowska, Ewa;
Jurkiewicz, Dorota;
Ciara, Elżbieta;
Ołtarzewski, Mariusz;
Gradowska, Wanda;
Sykut‐Cegielska, Jolanta;
Krajewska‐Walasek, Małgorzata;
Andresen, Brage S.;
Gregersen, Niels;
Pronicka, Ewa

Publication type:

Article

Fatty acid profile in patients with phenylketonuria and its relationship with bone mineral density.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 363, doi. 10.1007/s10545-010-9189-0

By:

Lage, Sergio;
Bueno, María;
Andrade, Fernando;
Prieto, José Ángel;
Delgado, Carmen;
Legarda, María;
Sanjurjo, Pablo;
Aldámiz‐Echevarría, Luis Jose

Publication type:

Article

Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3‐year follow‐up.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 355, doi. 10.1007/s10545-010-9186-3

By:

Masciullo, Marcella;
Santoro, Massimo;
Modoni, Anna;
Ricci, Enzo;
Guitton, Jerome;
Tonali, Pietro;
Silvestri, Gabriella

Publication type:

Article

An adult onset case of alpha‐methyl‐acyl‐CoA racemase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 349, doi. 10.1007/s10545-010-9183-6

By:

Smith, Emily Helen;
Gavrilov, Dimitar K.;
Oglesbee, Devin;
Freeman, William D.;
Vavra, Michael W.;
Matern, Dietrich;
Tortorelli, Silvia

Publication type:

Article

Expanded newborn screening in Greece: 30 months of experience.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 341, doi. 10.1007/s10545-010-9181-8

By:

Loukas, Yannis L.;
Soumelas, Georgios‐Stefanos;
Dotsikas, Yannis;
Georgiou, Vassiliki;
Molou, Elina;
Thodi, Georgia;
Boutsini, Maria;
Biti, Sofia;
Papadopoulos, Konstantinos

Publication type:

Article

Antenatal diagnosis of pompe disease by fetal echocardiography: impact on outcome after early initiation of enzyme replacement therapy.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 333, doi. 10.1007/s10545-010-9179-2

By:

Hamdan, Mohamed A.;
El‐Zoabi, Bushra A.;
Begam, Muzibunnisa A.;
Mirghani, Hisham M.;
Almalik, Mohamed H.

Publication type:

Article