Works matching IS 01418955 AND DT 2010 AND VI 33

Results: 210

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

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

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

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

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

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

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

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

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

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

A neonatal‐onset succinyl‐CoA:3‐ketoacid CoA transferase (SCOT)‐deficient patient with T435N and c.658‐666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 307, doi. 10.1007/s10545-010-9168-5

By:

Fukao, Toshiyuki;
Ishii, Tomohiro;
Amano, Naoko;
Kursula, Petri;
Takayanagi, Masaki;
Murase, Keiko;
Sakaguchi, Naomi;
Kondo, Naomi;
Hasegawa, Tomonobu

Publication type:

Article

Past, present and future of newborn screening in Chile.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 301, doi. 10.1007/s10545-010-9165-8

By:

Cornejo, V.;
Raimann, E.;
Cabello, J. F.;
Valiente, A.;
Becerra, C.;
Opazo, M.;
Colombo, M.

Publication type:

Article

Pulmonary hemorrhage in type 3 Gaucher disease: a case report.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 329, doi. 10.1007/s10545-010-9176-5

By:

Vellodi, Ashok;
Ashworth, Michael;
Finnegan, Niamh;
Wallis, Colin

Publication type:

Article

Simultaneous LC‐MS/MS determination of phenylbutyrate, phenylacetate benzoate and their corresponding metabolites phenylacetylglutamine and hippurate in blood and urine.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 321, doi. 10.1007/s10545-010-9172-9

By:

Laryea, Maurice D.;
Herebian, Diran;
Meissner, Thomas;
Mayatepek, Ertan

Publication type:

Article

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 315, doi. 10.1007/s10545-010-9169-4

By:

Quintana, Ester;
Pineda, Mercé;
Font, Aida;
Vilaseca, Maria Antonia;
Tort, Frederic;
Ribes, Antonia;
Briones, Paz

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

Adipocytes participate in storage in α‐galactosidase deficiency (Fabry disease).

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 297, doi. 10.1007/s10545-010-9160-0

By:

Hůlková, Helena;
Elleder, Milan

Publication type:

Article

Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 293, doi. 10.1007/s10545-010-9155-x

By:

Navarro‐Sastre, Aleix;
García‐Silva, Maria Teresa;
Martín‐Hernández, Elena;
Lluch, Montserrat;
Briones, Paz;
Ribes, Antonia

Publication type:

Article

High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 289, doi. 10.1007/s10545-010-9152-0

By:

Milánkovics, Ilona;
Németh, Krisztina;
Somogyi, Csilla;
Schuler, Ágnes;
Fekete, György

Publication type:

Article

Whole body composition analysis by the BodPod air‐displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 283, doi. 10.1007/s10545-010-9149-8

By:

Albersen, Monique;
Bonthuis, Marjolein;
de Roos, Nicole M.;
den van Hurk, Dorine A. M.;
Carbasius Weber, Ems;
Hendriks, Margriet M. W. B.;
de Sain‐van der Velden, Monique G. M.;
de Koning, Tom J.;
Visser, Gepke

Publication type:

Article

Diagnosis and high incidence of hyperornithinemia‐hyperammonemia‐homocitrullinemia (HHH) syndrome in northern Saskatchewan.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 275, doi. 10.1007/s10545-010-9148-9

By:

Sokoro, AbdulRazaq A. H.;
Lepage, Joyce;
Antonishyn, Nick;
McDonald, Ryan;
Rockman‐Greenberg, Cheryl;
Irvine, James;
Lehotay, Denis C.

Publication type:

Article

Transcobalamin deficiency caused by compound heterozygosity for two novel mutations in the TCN2 gene: a study of two affected siblings, their brother, and their parents.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 269, doi. 10.1007/s10545-010-9145-z

By:

Nissen, Peter H.;
Nordwall, Maria;
Hoffmann‐Lücke, Elke;
Sorensen, Boe S.;
Nexo, Ebba

Publication type:

Article

Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 205, doi. 10.1007/s10545-010-9085-7

By:

Schreuder, L. T. W.;
Nijhuis‐van der Sanden, M. W. G.;
de Hair, A.;
Peters, G.;
Wortmann, S.;
Bok, L. A.;
Morava, E.

Publication type:

Article

Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 257, doi. 10.1007/s10545-010-9140-4

By:

Artigalás, Osvaldo;
Lagranha, Valeska Lizzi;
Saraiva‐Pereira, Maria Luiza;
Burin, Maira Graeff;
Lourenço, Charles Marques;
van der Linden, Jr, Hélio;
Santos, Mara Lúcia Ferreira;
Rosemberg, Sergio;
Steiner, Carlos Eduardo;
Kok, Fernando;
de Souza, Carolina F. Moura;
Jardim, Laura B.;
Giugliani, Roberto;
Schwartz, Ida Vanessa

Publication type:

Article

Use of a long‐chain triglyceride‐restricted/medium‐chain triglyceride‐supplemented diet in a case of malonyl‐CoA decarboxylase deficiency with cardiomyopathy.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 253, doi. 10.1007/s10545-010-9137-z

By:

Footitt, E. J.;
Stafford, J.;
Dixon, M.;
Burch, M.;
Jakobs, C.;
Salomons, G. S.;
Cleary, M. A.

Publication type:

Article

Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 249, doi. 10.1007/s10545-010-9136-0

By:

Tanaka, Akemi;
Takeda, Taisuke;
Hoshina, Takao;
Fukai, Kazuyoshi;
Yamano, Tsunekazu

Publication type:

Article

Differences between predicted and established diagnoses of Smith‐Lemli‐Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 241, doi. 10.1007/s10545-010-9132-4

By:

Jezela‐Stanek, Aleksandra;
Ciara, Elżbieta;
Małunowicz, Ewa;
Chrzanowska, Krystyna;
Latos‐Bieleńska, Anna;
Krajewska‐Walasek, Małgorzata;
The Smith‐Lemli‐Opitz syndrome (SLOS) Collaborative Group

Publication type:

Article

Medium‐chain acyl‐CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 263, doi. 10.1007/s10545-010-9143-1

By:

Al‐Hassnan, Zuhair N.;
Imtiaz, Faiqa;
Al‐Amoudi, Mohamed;
Rahbeeni, Zuhair;
Al‐Sayed, Moeen;
Al‐Owain, Mohammed;
Al‐Zaidan, Hamad;
Al‐Odaib, Ali;
Rashed, Mohamed S.

Publication type:

Article

Loss of NPC1 function in a patient with a co‐inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 227, doi. 10.1007/s10545-010-9107-5

By:

Kirk, J.;
Porter, K. M.;
Parker, V.;
Barroso, I.;
O'Rahilly, S.;
Hendriksz, C.;
Semple, R. K.

Publication type:

Article

Mitochondrial tRNA<sup>Leu(UUR)</sup> mutation m.3302A > G presenting as childhood‐onset severe myopathy: threshold determination through segregation study.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 219, doi. 10.1007/s10545-010-9098-2

By:

Ballhausen, Diana;
Guerry, Frédéric;
Hahn, Dagmar;
Schaller, André;
Nuoffer, Jean‐Marc;
Bonafé, Luisa;
Jeannet, Pierre‐Yves;
Jacquemont, Sebastien

Publication type:

Article

Glycogen storage disease type III in the Irish population.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 215, doi. 10.1007/s10545-010-9096-4

By:

Crushell, Ellen;
Treacy, Eileen P.;
Dawe, J.;
Durkie, M.;
Beauchamp, Nicholas J.

Publication type:

Article

Aminoacylase 1 deficiency associated with autistic behavior.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 211, doi. 10.1007/s10545-010-9089-3

By:

Tylki‐Szymanska, Anna;
Gradowska, Wanda;
Sommer, Anke;
Heer, Angelina;
Walter, Melanie;
Reinhard, Christina;
Omran, Heymut;
Sass, Jörn Oliver;
Jurecka, Agnieszka

Publication type:

Article

Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 233, doi. 10.1007/s10545-010-9123-5

By:

Weiss, Karl Heinz;
Runz, Heiko;
Noe, Barbara;
Gotthardt, Daniel Nils;
Merle, Uta;
Ferenci, Peter;
Stremmel, Wolfgang;
Füllekrug, Joachim

Publication type:

Article

Optic neuropathy in methylmalonic acidemia: the role of neuroprotection.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 199, doi. 10.1007/s10545-010-9084-8

By:

Pinar‐Sueiro, Sergio;
Martínez‐Fernández, Ricardo;
Lage‐Medina, Sergio;
Aldamiz‐Echevarria, Luis;
Vecino, Elena

Publication type:

Article