Works matching IS 21928312 AND DT 2021 AND VI 60 AND IP 1

Results: 12

Allogenic hematopoietic stem cell transplantation in two siblings with adult metachromatic leukodystrophy and a systematic literature review.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 96, doi. 10.1002/jmd2.12221

By:

Videbæk, Cecilie;
Stokholm, Jette;
Sengeløv, Henrik;
Fjeldborg, Lone U.;
Larsen, Vibeke Andrée;
Krarup, Christian;
Nielsen, Jørgen E.;
Grønborg, Sabine

Publication type:

Article

Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 15, doi. 10.1002/jmd2.12220

By:

Kwong, Anna Ka‐Yee;
Wong, Sheila Suet‐Na;
Rodenburg, Richard J. T.;
Smeitink, Jan;
Chan, Godfrey Chi Fung;
Fung, Cheuk‐Wing

Publication type:

Article

Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 88, doi. 10.1002/jmd2.12219

By:

Elserafy, Noha;
Thompson, Sue;
Dalkeith, Troy;
Stormon, Michael;
Thomas, Gordon;
Shun, Albert;
Sawyer, Janine;
Balasubramanian, Shanti;
Bhattacharya, Kaustuv;
Badawi, Nadia;
Ellaway, Carolyn

Publication type:

Article

SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 75, doi. 10.1002/jmd2.12218

By:

Aldosary, Mazhor;
Baselm, Shahad;
Abdulrahim, Maha;
Almass, Rawan;
Alsagob, Maysoon;
AlMasseri, Zainab;
Huma, Rozeena;
AlQuait, Laila;
Al‐Shidi, Tarfa;
Al‐Obeid, Eman;
AlBakheet, Albandary;
Alahideb, Basma;
Alahaidib, Lujane;
Qari, Alya;
Taylor, Robert W.;
Colak, Dilek;
AlSayed, Moeenaldeen D.;
Kaya, Namik

Publication type:

Article

The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 67, doi. 10.1002/jmd2.12217

By:

Guenzel, Adam J.;
Hall, Patricia L.;
Scott, Anna I.;
Lam, Christina;
Chang, Irene J.;
Thies, Jenny;
Ferreira, Carlos R.;
Pichurin, Pavel;
Laxen, William;
Raymond, Kimiyo;
Gavrilov, Dimitar K.;
Oglesbee, Devin;
Rinaldo, Piero;
Matern, Dietrich;
Tortorelli, Silvia

Publication type:

Article

Classifying molecular phenotypes of G6PC variants for pathogenic properties and to guide therapeutic development.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 56, doi. 10.1002/jmd2.12215

By:

Plona, Kathleen L.;
Eastman, Jean F.;
Drumm, Mitchell L.

Publication type:

Article

Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 10, doi. 10.1002/jmd2.12214

By:

Fuller, Maria;
Ketteridge, David

Publication type:

Article

Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl‐oligosaccharide alpha‐1,2‐mannnosidase‐congenital disorders of glycosylation (MAN1B1‐CDG).

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 42, doi. 10.1002/jmd2.12213

By:

Kemme, Lisa;
Grüneberg, Marianne;
Reunert, Janine;
Rust, Stephan;
Park, Julien;
Westermann, Cordula;
Wada, Yoshinao;
Schwartz, Oliver;
Marquardt, Thorsten

Publication type:

Article

Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross‐sectional analysis.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 32, doi. 10.1002/jmd2.12212

By:

Reichert, Roberta;
Pérez, Juliano A.;
Dalla‐Corte, Amauri;
Pinto e Vairo, Filippo;
Souza, Carolina F. M.;
Giugliani, Roberto;
Isolan, Gustavo R.;
Stefani, Marco Antonio

Publication type:

Article

Morquio‐like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1‐related phenotype.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 23, doi. 10.1002/jmd2.12211

By:

Stockler‐Ipsiroglu, Sylvia;
Yazdanpanah, Nahid;
Yazdanpanah, Mojgan;
Moisa Popurs, Marioara;
Yuskiv, Nataliya;
Schmitz Ferreira Santos, Mara Lúcia;
Ae Kim, Chong;
Fischinger Moura de Souza, Carolina;
Marques Lourenço, Charles;
Steiner, Carlos Eduardo;
Federhen, Andressa;
Giugliani, Luciana;
Bastos Pereira, Débora Maria;
Durán‐Carabali, Luz Elena;
Giugliani, Roberto

Publication type:

Article

Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of FOLR1 gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic diet.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 3, doi. 10.1002/jmd2.12206

By:

Papadopoulou, Maria T.;
Dalpa, Efterpi;
Portokalas, Michalis;
Katsanika, Irene;
Tirothoulaki, Katerina;
Spilioti, Martha;
Gerou, Spyros;
Plecko, Barbara;
Evangeliou, Athanasios E.

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 1, doi. 10.1002/jmd2.12141
Publication type:: Article