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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
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
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
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
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
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
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
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

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