Works matching IS 21928312 AND DT 2020 AND VI 51 AND IP 1

Results: 14

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 1, doi. 10.1002/jmd2.12103
Publication type:: Article

Administration of gamma‐hydroxybutyrate instead of beta‐hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing error.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 25, doi. 10.1002/jmd2.12090

By:

Tuchmann‐Durand, Caroline;
Thevenet, Eloise;
Moulin, Florence;
Lesage, Fabrice;
Bouchereau, Juliette;
Oualha, Mehdi;
Khraiche, Diala;
Brassier, Anaïs;
Wicker, Camille;
Gobin‐Limballe, Stéphanie;
Arnoux, Jean‐Baptiste;
Lacaille, Florence;
Wicart, Clotilde;
Coat, Bruno;
Schlattler, Joel;
Cisternino, Salvatore;
Renolleau, Sylvain;
Secretan, Philippe‐Henri;
De Lonlay, Pascale

Publication type:

Article

Use of complementary and alternative medicine in patients with inborn errors of metabolism: A single‐center study.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 105, doi. 10.1002/jmd2.12089

By:

Tao, Jessica;
Rupar, C. Anthony;
Miller, Michael R.;
Ratko, Suzanne;
Prasad, Chitra

Publication type:

Article

Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literature.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 89, doi. 10.1002/jmd2.12088

By:

Molema, Femke;
Williams, Monique;
Langendonk, Janneke;
Darwish‐Murad, Sarwa;
Wetering, Jacqueline;
Jacobs, Ed;
Onkenhout, Willem;
Brusse, Esther;
Eerden, Anke;
Wagenmakers, Margreet

Publication type:

Article

High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 17, doi. 10.1002/jmd2.12087

By:

Higashimoto, Tomoyasu;
Kim, Alexander Y.;
Ogawa, Jessica T.;
Sloan, Jennifer L.;
Almuqbil, Mohammed A.;
Carlson, Julia M.;
Manoli, Irini;
Venditti, Charles P.;
Gunay‐Aygun, Meral;
Wang, Tao

Publication type:

Article

NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 82, doi. 10.1002/jmd2.12086

By:

Lipiński, Patryk;
Bogdańska, Anna;
Różdżyńska‐Świątkowska, Agnieszka;
Wierzbicka‐Rucińska, Aldona;
Tylki‐Szymańska, Anna

Publication type:

Article

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 76, doi. 10.1002/jmd2.12085

By:

Moravej, Hossein;
Altassan, Ruqaiah;
Jaeken, Jaak;
Enns, Gregory M.;
Ellaway, Carolyn;
Balasubramaniam, Shanti;
De Lonlay, Pascale;
Coman, David;
Mercimek‐Andrews, Saadet;
Witters, Peter;
Morava, Eva

Publication type:

Article

High prevalence of self‐reported autism spectrum disorder in the Propionic Acidemia Registry.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 70, doi. 10.1002/jmd2.12083

By:

Cotrina, Maria L.;
Ferreiras, Sindy;
Schneider, Patricia

Publication type:

Article

Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 11, doi. 10.1002/jmd2.12081

By:

Bursle, Carolyn;
Yiu, Eppie M.;
Yeung, Alison;
Freeman, Jeremy L.;
Stutterd, Chloe;
Leventer, Richard J.;
Vanderver, Adeline;
Yaplito‐Lee, Joy

Publication type:

Article

Quantitative amino acid analysis by liquid chromatography‐tandem mass spectrometry using low cost derivatization and an automated liquid handler.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 62, doi. 10.1002/jmd2.12080

By:

Phipps, William S.;
Crossley, Eric;
Boriack, Richard;
Jones, Patricia M.;
Patel, Khushbu

Publication type:

Article

Phenotypes and genotypes of mitochondrial aminoacyl‐tRNA synthetase deficiencies from a single neurometabolic clinic.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 3, doi. 10.1002/jmd2.12079

By:

Al Balushi, Aaisha;
Matviychuk, Diana;
Jobling, Rebekah;
Salomons, Gajja S.;
Blaser, Susan;
Mercimek‐Andrews, Saadet

Publication type:

Article

Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 53, doi. 10.1002/jmd2.12078

By:

Muñoz, Gloria;
García‐Seisdedos, David;
Ciubotariu, Crina;
Piris‐Villaespesa, Miguel;
Gandía, Marta;
Martín‐Moro, Fernando;
Gutiérrez‐Solana, Luis G.;
Morado, Marta;
López‐Jiménez, Javier;
Sánchez‐Herranz, Antonio;
Villarrubia, Jesús;
Castillo, Francisco J.

Publication type:

Article

An ancestral variant causing type I xanthinuria in Turkmen and Arab families is predicted to prevail in the Afro‐Asian stone‐forming belt.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 45, doi. 10.1002/jmd2.12077

By:

Peretz, Hava;
Korostishevsky, Michael;
Steinberg, David M.;
Kabha, Mustafa;
Usher, Sali;
Krause, Irit;
Shalev, Hannah;
Landau, Daniel;
Levartovsky, David

Publication type:

Article

Morquio‐B disease: Clinical and genetic characteristics of a distinct GLB1‐related dysostosis multiplex.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 30, doi. 10.1002/jmd2.12065

By:

Abumansour, Iman S.;
Yuskiv, Nataliya;
Paschke, Eduard;
Stockler‐Ipsiroglu, Sylvia

Publication type:

Article