Works matching IS 01418955 AND DT 2018 AND VI 41 AND IP 4

Results: 21

A new opportunity: metabolism and neuropsychiatric disorders.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 583, doi. 10.1007/s10545-018-0215-y

By:

Kozicz, Tamas;
Morava, E.

Publication type:

Article

In memoriam.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 751, doi. 10.1007/s10545-018-0191-2

By:

Van Hove, Johan L. K.;
Thomas, Janet A.;
Baker, Peter R.;
Larson, Austin A.

Publication type:

Article

Acknowledgement to Referees.

Published in:: Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 747, doi. 10.1007/s10545-018-0190-3
Publication type:: Article

Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 631, doi. 10.1007/s10545-018-0188-x

By:

Scaini, Giselli;
Tonon, Tássia;
Moura de Souza, Carolina F.;
Schuck, Patricia F.;
Ferreira, Gustavo C.;
Quevedo, João;
Neto, João Seda;
Amorim, Tatiana;
Camelo, Jose S.;
Margutti, Ana Vitoria Barban;
Hencke Tresbach, Rafael;
Sperb-Ludwig, Fernanda;
Boy, Raquel;
de Medeiros, Paula F. V.;
Schwartz, Ida Vanessa D.;
Streck, Emilio Luiz

Publication type:

Article

The role of suboptimal mitochondrial function in vulnerability to post-traumatic stress disorder.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 585, doi. 10.1007/s10545-018-0168-1

By:

Preston, Graeme;
Kirdar, Faisal;
Kozicz, Tamas

Publication type:

Article

MPS-IIIA mice acquire autistic behaviours with age.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 669, doi. 10.1007/s10545-018-0160-9

By:

Lau, Adeline A.;
Tamang, Sarah J.;
Hemsley, Kim M.

Publication type:

Article

Focus on fatty acids in the neurometabolic pathophysiology of psychiatric disorders.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 597, doi. 10.1007/s10545-018-0158-3

By:

Mocking, R. J. T.;
Assies, J.;
Ruhé, H. G.;
Schene, A. H.

Publication type:

Article

The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 689, doi. 10.1007/s10545-018-0157-4

By:

Hediger, Nina;
Landolt, Markus A.;
Diez-Fernandez, Carmen;
Huemer, Martina;
Häberle, Johannes

Publication type:

Article

Mulberries in the urine: a tell-tale sign of Fabry disease.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 745, doi. 10.1007/s10545-018-0155-6

By:

Chong, Pin Fee;
Nakamura, Kimitoshi;
Kira, Ryutaro

Publication type:

Article

Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategies.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 699, doi. 10.1007/s10545-018-0153-8

By:

Vogel, Kara R.;
Ainslie, Garrett R.;
Walters, Dana C.;
McConnell, Alice;
Dhamne, Sameer C.;
Rotenberg, Alexander;
Roullet, Jean-Baptiste;
Gibson, K. Michael

Publication type:

Article

Natural history of neurological abnormalities in cerebrotendinous xanthomatosis.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 647, doi. 10.1007/s10545-018-0152-9

By:

Wong, Janice C.;
Walsh, Kailey;
Hayden, Douglas;
Eichler, Florian S.

Publication type:

Article

Tetrahydrobiopterin treatment reduces brain L-Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 mice.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 709, doi. 10.1007/s10545-018-0150-y

By:

Scherer, Tanja;
Allegri, Gabriella;
Sarkissian, Christineh N.;
Ying, Ming;
Grisch-Chan, Hiu Man;
Rassi, Anahita;
Winn, Shelley R.;
Harding, Cary O.;
Martinez, Aurora;
Thöny, Beat

Publication type:

Article

Quantification of gait in children with mitochondrial disease.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 731, doi. 10.1007/s10545-018-0148-5

By:

Koene, Saskia;
Stolwijk, Niki M.;
Ramakers, Rob;
de Vries, Maaike;
de Boer, Lonneke;
Janssen, Mirian C. H.;
de Groot, Imelda;
Smeitink, Jan

Publication type:

Article

Biochemical markers and neuropsychological functioning in distal urea cycle disorders.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 657, doi. 10.1007/s10545-017-0132-5

By:

Waisbren, Susan E.;
Cuthbertson, David;
Burgard, Peter;
Holbert, Amy;
McCarter, Robert;
Cederbaum, Stephen;
Members of the Urea Cycle Disorders Consortium

Publication type:

Article

A family segregating lethal neonatal coenzyme Q<sub>10</sub> deficiency caused by mutations in COQ9.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 719, doi. 10.1007/s10545-017-0122-7

By:

Smith, Amanda C.;
Ito, Yoko;
Ahmed, Afsana;
Schwartzentruber, Jeremy A.;
Beaulieu, Chandree L.;
Aberg, Erika;
Majewski, Jacek;
Bulman, Dennis E.;
Horsting-Wethly, Karina;
Koning, Diana Vermunt-de;
Care4Rare Canada Consortium;
Rodenburg, Richard J.;
Boycott, Kym M.;
Penney, Lynette S.

Publication type:

Article

Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 743, doi. 10.1007/s10545-017-0117-4

By:

Posset, Roland;
Garcia-Cazorla, Angeles;
Valayannopoulos, Vassili;
Leão Teles, Elisa;
Dionisi-Vici, Carlo;
Brassier, Anaïs;
Burlina, Alberto B.;
Burgard, Peter;
Cortès-Saladelafont, Elisenda;
Dobbelaere, Dries;
Couce, Maria L.;
Sykut-Cegielska, Jolanta;
Häberle, Johannes;
Lund, Allan M.;
Chakrapani, Anupam;
Schiff, Manuel;
Walter, John H.;
Zeman, Jiri;
Vara, Roshni;
Kölker, Stefan

Publication type:

Article

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 741, doi. 10.1007/s10545-017-0116-5

By:

Heringer, Jana;
Valayannopoulos, Vassili;
Lund, Allan M.;
Wijburg, Frits A.;
Freisinger, Peter;
Barić, Ivo;
Baumgartner, Matthias R.;
Burgard, Peter;
Burlina, Alberto B.;
Chapman, Kimberly A.;
i Saladelafont, Elisenda Cortès;
Karall, Daniela;
Mühlhausen, Chris;
Riches, Victoria;
Schiff, Manuel;
Sykut-Cegielska, Jolanta;
Walter, John H.;
Zeman, Jiri;
Chabrol, Brigitte;
Kölker, Stefan

Publication type:

Article

AMP-activated protein kinase activation in mediating phenylalanine-induced neurotoxicity in experimental models of phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 679, doi. 10.1007/s10545-017-0115-6

By:

Lu, Lihua;
Ben, Xiaoming;
Xiao, Lingling;
Peng, Min;
Zhang, Yongjun

Publication type:

Article

Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 641, doi. 10.1007/s10545-017-0086-7

By:

Stelten, Bianca M. L.;
Bonnot, Olivier;
Huidekoper, Hidde H.;
van Spronsen, Francjan J.;
van Hasselt, Peter M.;
Kluijtmans, Leo A. J.;
Wevers, Ron A.;
Verrips, Aad

Publication type:

Article

Autism spectrum disorders in propionic acidemia patients.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 623, doi. 10.1007/s10545-017-0070-2

By:

de la Bâtie, Caroline Dejean;
Barbier, Valérie;
Roda, Célina;
Brassier, Anaïs;
Arnoux, Jean-Baptiste;
Valayannopoulos, Vassili;
Guemann, Anne-Sophie;
Pontoizeau, Clément;
Gobin, Stéphanie;
Habarou, Florence;
Lacaille, Florence;
Bonnefont, Jean-Paul;
Canouï, Pierre;
Ottolenghi, Chris;
De Lonlay, Pascale;
Ouss, Lisa

Publication type:

Article

Inborn errors of metabolism associated with psychosis: literature review and case-control study using exome data from 5090 adult individuals.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 613, doi. 10.1007/s10545-017-0023-9

By:

Trakadis, Yannis J.;
Fulginiti, Vanessa;
Walterfang, Mark

Publication type:

Article