Works matching IS 21928312 AND DT 2020 AND VI 52 AND IP 1

Results: 12

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 1, doi. 10.1002/jmd2.12150
Publication type:: Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 1, doi. 10.1002/jmd2.12150
Publication type:: Article

Earwax: A potentially useful medium to identify inborn errors of metabolism?

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 72, doi. 10.1002/jmd2.12102

By:

Krywawych, Stefan;
Cleary, Maureen;
McSweeney, Mel;
Heales, Simon

Publication type:

Article

Description of the Lesch‐Nyhan neurobehavioral disorder and its management through participant observation of three young individuals.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 63, doi. 10.1002/jmd2.12100

By:

Bozano, Anna;
Schiaffino, Alessandra;
Spessa, Alessandra;
Valeriani, Francesca;
Mancinelli, Raimondo;
Micheli, Vanna;
Dolcetta, Diego

Publication type:

Article

Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 55, doi. 10.1002/jmd2.12098

By:

Penon‐Portmann, Monica;
Lotz‐Esquivel, Stephanie;
Chavez Carrera, Alejandra;
Jiménez‐Hernández, Mildred;
Alvarado‐Romero, Danny;
Segura‐Cordero, Sharon;
Rimolo‐Donadio, Fiorella;
Hevia‐Urrutia, Francisco;
Mora‐Guevara, Alfredo;
Saborío‐Rocafort, Manuel;
Jiménez‐Arguedas, Gabriela;
Badilla‐Porras, Ramsés

Publication type:

Article

The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 23, doi. 10.1002/jmd2.12097

By:

Kuper, Willemijn F. E.;
Alfen, Claudia;
Eck, Linda;
Man, Stella A.;
Willemsen, Marjolein H.;
Gassen, Koen L. I.;
Losekoot, Monique;
Hasselt, Peter M.

Publication type:

Article

Papillary renal cell carcinoma in two young adults with glycogen storage disease type Ia.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 17, doi. 10.1002/jmd2.12096

By:

Perry, Ariane;
Douillard, Claire;
Jonca, Frederic;
Glowacki, Francois;
Leroy, Xavier;
Caveriviere, Paul;
Hubert, Aurélie;
Labrune, Philippe

Publication type:

Article

Pre‐school neurocognitive and functional outcomes after liver transplant in children with early onset urea cycle disorders, maple syrup urine disease, and propionic acidemia: An inception cohort matched‐comparison study.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 43, doi. 10.1002/jmd2.12095

By:

Jain‐Ghai, Shailly;
Joffe, Ari R.;
Bond, Gwen Y.;
Siriwardena, Komudi;
Chan, Alicia;
Yap, Jason Y. K.;
Hajihosseini, Morteza;
Dinu, Irina A.;
Acton, Bryan V.;
Robertson, Charlene M. T.

Publication type:

Article

Cavitating and tigroid‐like leukoencephalopathy in a case of NDUFA2‐related disorder.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 11, doi. 10.1002/jmd2.12094

By:

Alagia, Marianna;
Cappuccio, Gerarda;
Torella, Annalaura;
D'Amico, Alessandra;
Mazio, Federica;
Romano, Alfonso;
Fecarotta, Simona;
Casari, Giorgio;
Nigro, Vincenzo;
Brunetti‐Pierri, Nicola

Publication type:

Article

Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha‐L‐iduronidase determinations on dried blood spots to predict symptoms.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 35, doi. 10.1002/jmd2.12093

By:

Langan, Thomas J.;
Jalal, Kabir;
Barczykowski, Amy L.;
Carter, Randy L.;
Stapleton, Molly;
Orii, Kenji;
Fukao, Toshiyuki;
Kobayashi, Hironori;
Yamaguchi, Seiji;
Tomatsu, Shunji

Publication type:

Article

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 3, doi. 10.1002/jmd2.12092

By:

Schwahn, Bernd C.;
Scheffner, Thomas;
Stepman, Hedwig;
Verloo, Peter;
Das, Anibh M;
Fletcher, Janice;
Blom, Henk J;
Benoist, Jean‐Francois;
Barshop, Bruce A.;
Barea, Jaime J.;
Feigenbaum, Annette

Publication type:

Article

Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 28, doi. 10.1002/jmd2.12091

By:

Isler, Jasmine;
Rüfenacht, Véronique;
Gemperle, Corinne;
Allegri, Gabriella;
Häberle, Johannes

Publication type:

Article