Works matching IS 21928312 AND DT 2024 AND VI 65 AND IP 2

Results: 10

Specific GAG ratios in the diagnosis of mucopolysaccharidoses.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 2, p. 116, doi. 10.1002/jmd2.12412

By:

Mathis, Déborah;
Prost, Jean‐Christophe;
Maeder, Gabriela;
Arackal, Liya;
Zhang, Haoyue;
Kurth, Sandra;
Freiburghaus, Katrin;
Nuoffer, Jean‐Marc

Publication type:

Article

Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spots.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 2, p. 124, doi. 10.1002/jmd2.12413

By:

Hirachan, Rohit;
Horman, Alistair;
Burke, Derek;
Heales, Simon

Publication type:

Article

Non‐Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 2, p. 56, doi. 10.1002/jmd2.12411

By:

Burlina, Alberto B.;
Burlina, Alessandro P.;
Mignani, Renzo;
Cazzorla, Chiara;
Gueraldi, Daniela;
Puma, Andrea;
Loro, Christian;
Baumgartner, Matthias R.;
Gragnaniello, Vincenza

Publication type:

Article

Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patients.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 2, p. 110, doi. 10.1002/jmd2.12410

By:

Hermans, Merel E.;
Geurtsen, Gert J.;
Hollak, Carla E. M.;
Bosch, Annet M.

Publication type:

Article

5,10‐methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings.

Published in:

2024

By:

Liepina, Lelde;
Smith, Desiree E. C.;
Huidekoper, Hidde;
Zeidler, Shimriet;
Wamelink, Mirjam;
de Wit, Marie‐Claire;
Wilke, Martina;
Ruijter, George;
Bierau, Jörgen;
Blom, Henk J.

Publication type:

Case Study

Clinical, biochemical and molecular characterization of a new case with FDX2‐related mitochondrial disorder: Potential biomarkers and treatment options.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 2, p. 102, doi. 10.1002/jmd2.12408

By:

Wongkittichote, Parith;
Pantano, Cassandra;
He, Miao;
Hong, Xinying;
Demczko, Matthew M.

Publication type:

Article

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 2, p. 85, doi. 10.1002/jmd2.12407

By:

Sheth, Jayesh;
Nair, Aadhira;
Bhavsar, Riddhi;
Godbole, Koumudi;
Datar, Chaitanya;
Nampoothiri, Sheela;
Panigrahi, Inusha;
Shah, Heli;
Bajaj, Shruti;
Tayade, Naresh;
Bhardwaj, Naveen;
Sheth, Harsh

Publication type:

Article

Correction to "Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infant".

Published in:: 2024
Publication type:: Correction Notice

Patient and family experiences of lysosomal storage diseases in Canada: A qualitative interview study.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 2, p. 63, doi. 10.1002/jmd2.12403

By:

Awada, Nahya;
Holcik, Martin

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 2, p. 47, doi. 10.1002/jmd2.12369
Publication type:: Article