Works matching IS 01418955 AND DT 2017 AND VI 40 AND IP 3

Results: 20

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 423, doi. 10.1007/s10545-017-0015-9

By:

Wortmann, Saskia;
Chen, Margaret;
Colombo, Roberto;
Pontoglio, Alessandro;
Alhaddad, Bader;
Botto, Lorenzo;
Yuzyuk, Tatiana;
Coughlin, Curtis;
Descartes, Maria;
Grűnewald, Stephanie;
Maranda, Bruno;
Mills, Philippa;
Pitt, James;
Potente, Catherine;
Rodenburg, Richard;
Kluijtmans, Leo;
Sampath, Srirangan;
Pai, Emil;
Wevers, Ron;
Tiller, George

Publication type:

Article

Very long-chain acyl-CoA dehydrogenase (VLCAD-) deficiency-studies on treatment effects and long-term outcomes in mouse models.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 317, doi. 10.1007/s10545-017-0016-8

By:

Tucci, Sara

Publication type:

Article

Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 433, doi. 10.1007/s10545-017-0017-7

By:

Barman-Aksoezen, Jasmin;
Girelli, Domenico;
Aurizi, Caterina;
Schneider-Yin, Xiaoye;
Campostrini, Natascia;
Barbieri, Luca;
Minder, Elisabeth;
Biolcati, Gianfranco

Publication type:

Article

Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 415, doi. 10.1007/s10545-017-0021-y

By:

Paquay, Stéphanie;
Bourillon, Agnès;
Pichard, Samia;
Benoist, Jean-François;
Lonlay, Pascale;
Dobbelaere, Dries;
Fouilhoux, Alain;
Guffon, Nathalie;
Rouvet, Isabelle;
Labarthe, François;
Mention, Karine;
Touati, Guy;
Valayannopoulos, Vassili;
Ogier de Baulny, Hélène;
Elmaleh-Bergès, Monique;
Acquaviva-Bourdain, Cécile;
Vianey-Saban, Christine;
Schiff, Manuel

Publication type:

Article

NTCP deficiency and persistently raised bile salts: an adult case.

Published in:

2017

By:

Herpe, Filip;
Waterham, Hans;
Adams, Christopher;
Mannens, Marcel;
Bikker, Hennie;
Vaz, Frédéric;
Cassiman, David

Publication type:

Letter

Erratum to: International Paediatric Mitochondrial Disease Scale.

Published in:

2017

By:

Koene, Saskia

Publication type:

Erratum

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 385, doi. 10.1007/s10545-017-0025-7

By:

Reid, Emma;
Williams, Hywel;
Anderson, Glenn;
Benatti, Malika;
Chong, Kling;
James, Chela;
Ocaka, Louise;
Hemingway, Cheryl;
Little, Daniel;
Brown, Richard;
Parker, Alasdair;
Holden, Simon;
Footitt, Emma;
Rahman, Shamima;
Gissen, Paul;
Mills, Philippa;
Clayton, Peter

Publication type:

Article

Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 395, doi. 10.1007/s10545-017-0026-6

By:

Nguyen, Khanh;
Abdelkreem, Elsayed;
Colombo, Roberto;
Hasegawa, Yuki;
Can, Ngoc;
Bui, Thao;
Le, Hai;
Tran, Mai;
Nguyen, Hoan;
Trinh, Hung;
Aoyama, Yuka;
Sasai, Hideo;
Yamaguchi, Seiji;
Fukao, Toshiyuki;
Vu, Dung

Publication type:

Article

Sweet and sour: an update on classic galactosemia.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 325, doi. 10.1007/s10545-017-0029-3

By:

Coelho, Ana;
Rubio-Gozalbo, M.;
Vicente, João;
Rivera, Isabel

Publication type:

Article

Expanding the phenotype in argininosuccinic aciduria: need for new therapies.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 357, doi. 10.1007/s10545-017-0022-x

By:

Baruteau, Julien;
Jameson, Elisabeth;
Morris, Andrew;
Chakrapani, Anupam;
Santra, Saikat;
Vijay, Suresh;
Kocadag, Huriye;
Beesley, Clare;
Grunewald, Stephanie;
Murphy, Elaine;
Cleary, Maureen;
Mundy, Helen;
Abulhoul, Lara;
Broomfield, Alexander;
Lachmann, Robin;
Rahman, Yusof;
Robinson, Peter;
MacPherson, Lesley;
Foster, Katharine;
Chong, W.

Publication type:

Article

Enzyme replacement therapy and beyond-in memoriam Roscoe O. Brady, M.D. (1923-2016).

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 343, doi. 10.1007/s10545-017-0032-8

By:

Ries, Markus

Publication type:

Article

Neurocognitive profiles in MSUD school-age patients.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 377, doi. 10.1007/s10545-017-0033-7

By:

Bouchereau, Juliette;
Leduc-Leballeur, Julie;
Pichard, Samia;
Imbard, Apolline;
Benoist, Jean-François;
Abi Warde, Marie-Thérèse;
Arnoux, Jean-Baptiste;
Barbier, Valérie;
Brassier, Anaïs;
Broué, Pierre;
Cano, Aline;
Chabrol, Brigitte;
Damon, Gilles;
Gay, Claire;
Guillain, Isabelle;
Habarou, Florence;
Lamireau, Delphine;
Ottolenghi, Chris;
Paermentier, Laetitia;
Sabourdy, Frédérique

Publication type:

Article

Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 455, doi. 10.1007/s10545-017-0034-6

By:

Lum, Su;
Stepien, Karolina;
Ghosh, Arunabha;
Broomfield, Alexander;
Church, Heather;
Mercer, Jean;
Jones, Simon;
Wynn, Robert

Publication type:

Article

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 403, doi. 10.1007/s10545-017-0035-5

By:

Karaa, Amel;
Rahman, Shamima;
Lombès, Anne;
Yu-Wai-Man, Patrick;
Sheikh, Muniza;
Alai-Hansen, Sherita;
Cohen, Bruce;
Dimmock, David;
Emrick, Lisa;
Falk, Marni;
McCormack, Shana;
Mirsky, David;
Moore, Tony;
Parikh, Sumit;
Shoffner, John;
Taivassalo, Tanja;
Tarnopolsky, Mark;
Tein, Ingrid;
Odenkirchen, Joanne;
Goldstein, Amy

Publication type:

Article

Roscoe O. Brady, MD.

Published in:

2017

By:

Ries, Markus

Publication type:

Letter

News and views.

Published in:

2017

By:

Houten, Sander

Publication type:

Report

Slow, continuous enzyme replacement via spinal CSF in dogs with the paediatric-onset neurodegenerative disease, MPS IIIA.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 443, doi. 10.1007/s10545-016-9994-1

By:

King, Barbara;
Marshall, Neil;
Hassiotis, Sofia;
Trim, Paul;
Tucker, Justin;
Hattersley, Kathryn;
Snel, Marten;
Jolly, Robert;
Hopwood, John;
Hemsley, Kim

Publication type:

Article

Household financial burden of phenylketonuria and its impact on treatment in China: a cross-sectional study.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 369, doi. 10.1007/s10545-016-9995-0

By:

Wang, Lin;
Zou, Hui;
Ye, Fang;
Wang, Kundi;
Li, Xiaowen;
Chen, Zhihua;
Chen, Jie;
Han, Bingjuan;
Yu, Weimin;
He, Chun;
Shen, Ming

Publication type:

Article

Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 461, doi. 10.1007/s10545-016-9996-z

By:

Soares, Diogo;
Stroparo, Mariana;
Lian, Yu;
Takakura, Cristina;
Wolf, Sabrina;
Betz, Regina;
Kim, Chong

Publication type:

Article

Losartan improves aortic dilatation and cardiovascular disease in mucopolysaccharidosis I.

Published in:

2017

By:

Gonzalez, Esteban;
Tavares, Angela;
Poletto, Edina;
Giugliani, Roberto;
Matte, Ursula;
Baldo, Guilherme

Publication type:

Letter