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