Works matching IS 01418955 AND DT 2018 AND VI 41 AND IP 2

Results: 15

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Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 155, doi. 10.1007/s10545-018-0145-8

By:

Houten, Sander M.

Publication type:

Article

Timing of cognitive decline in CLN3 disease.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 257, doi. 10.1007/s10545-018-0143-x

By:

Kuper, Willemijn F. E.;
Alfen, Claudia;
Rigterink, Roeliene H.;
Fuchs, Sabine A.;
Genderen, Maria M.;
Hasselt, Peter M.

Publication type:

Article

A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 187, doi. 10.1007/s10545-018-0138-7

By:

Mayr, Simon Julius;
Sass, Jörn Oliver;
Vry, Julia;
Kirschner, Janbernd;
Mader, Irina;
Hövener, Jan-Bernd;
Reiss, Jochen;
Santamaria-Araujo, José Angel;
Schwarz, Günter;
Grünert, Sarah Catharina

Publication type:

Article

Biochemical changes and clinical outcomes in 34 patients with classic galactosemia.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 197, doi. 10.1007/s10545-018-0136-9

By:

Yuzyuk, Tatiana;
Viau, Krista;
Andrews, Ashley;
Pasquali, Marzia;
Longo, Nicola

Publication type:

Article

Globotriaosylsphingosine (Lyso-Gb<sub>3</sub>>) as a biomarker for cardiac variant (N215S) Fabry disease.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 239, doi. 10.1007/s10545-017-0127-2

By:

Alharbi, Fahad J.;
Baig, Shanat;
Auray-Blais, Christiane;
Boutin, Michel;
Ward, Douglas G.;
Wheeldon, Nigel;
Steed, Rick;
Dawson, Charlotte;
Hughes, Derralynn;
Geberhiwot, Tarekegn

Publication type:

Article

Coagulopathy in Zellweger spectrum disorders: a role for vitamin K.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 249, doi. 10.1007/s10545-017-0113-8

By:

Zeynelabidin, Sara;
Klouwer, Femke C. C.;
Meijers, Joost C. M.;
Suijker, Monique H.;
Engelen, Marc;
Poll-The, Bwee Tien;
Ommen, C. Heleen

Publication type:

Article

Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 181, doi. 10.1007/s10545-017-0112-9

By:

Kienstra, Nienke S.;
Reemst, Hannah E.;
Ginkel, Willem G.;
Daly, Anne;
Dam, Esther;
MacDonald, Anita;
Burgerhof, Johannes G. M.;
Blaauw, Pim;
McKiernan, Patrick J.;
Heiner-Fokkema, M. Rebecca;
Spronsen, Francjan J.

Publication type:

Article

Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 157, doi. 10.1007/s10545-017-0111-x

By:

Chapman, Kimberly A.;
Ostrovsky, Julian;
Rao, Meera;
Dingley, Stephen D.;
Polyak, Erzsebet;
Yudkoff, Marc;
Xiao, Rui;
Bennett, Michael J.;
Falk, Marni J.

Publication type:

Article

Avascular necrosis after long-term glucocorticoid treatment in MELAS: a cautionary note.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 277, doi. 10.1007/s10545-017-0110-y

By:

Choi, Han Som;
Lee, Jae Hyun;
Lee, Sun Ho;
Lee, Young-Mock

Publication type:

Article

Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 221, doi. 10.1007/s10545-017-0108-5

By:

Rybová, Jitka;
Ledvinová, Jana;
Sikora, Jakub;
Kuchař, Ladislav;
Dobrovolný, Robert

Publication type:

Article

Priapism in a Fabry disease mouse model is associated with upregulated penile nNOS and eNOS expression.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 231, doi. 10.1007/s10545-017-0107-6

By:

Meng, Xing-Li;
Arning, Erland;
Wight-Carter, Mary;
Day, Taniqua S.;
Jabbarzadeh-Tabrizi, Siamak;
Chen, Shuyuan;
Ziegler, Robin J.;
Bottiglieri, Teodoro;
Schneider, Jay W.;
Cheng, Seng H.;
Schiffmann, Raphael;
Shen, Jin-Song

Publication type:

Article

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 169, doi. 10.1007/s10545-017-0106-7

By:

Pop, Ana;
Williams, Monique;
Struys, Eduard A.;
Monné, Magnus;
Jansen, Erwin E. W.;
De Grassi, Anna;
Kanhai, Warsha A.;
Scarcia, Pasquale;
Ojeda, Matilde R. Fernandez;
Porcelli, Vito;
Dooren, Silvy J. M.;
Lennertz, Pascal;
Nota, Benjamin;
Abdenur, Jose E.;
Coman, David;
Das, Anibh Martin;
El-Gharbawy, Areeg;
Nuoffer, Jean-Marc;
Polic, Branka;
Santer, René

Publication type:

Article

Correlation between the molecular effects of mutations at the dimer interface of alanine-glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B<sub>6</sub>.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 263, doi. 10.1007/s10545-017-0105-8

By:

Dindo, Mirco;
Oppici, Elisa;
Dell'Orco, Daniele;
Montone, Rosa;
Cellini, Barbara

Publication type:

Article

Skin lesions in a patient with Cobalamin C disease in poor metabolic control.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 279, doi. 10.1007/s10545-017-0102-y

By:

Prasun, Pankaj;
Chapel-Crespo, Cristel;
Williamson, Amy;
Chu, Paul;
Oishi, Kimihiko;
Diaz, George

Publication type:

Article

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 209, doi. 10.1007/s10545-017-0098-3

By:

Burlina, Alberto B.;
Polo, Giulia;
Salviati, Leonardo;
Duro, Giovanni;
Zizzo, Carmela;
Dardis, Andrea;
Bembi, Bruno;
Cazzorla, Chiara;
Rubert, Laura;
Zordan, Roberta;
Desnick, Robert J.;
Burlina, Alessandro P.

Publication type:

Article