Results 241 to 250 of about 42,467 (260)

Thrombocytopenia in patients with inborn errors of immunity. [PDF]

BMC Immunol
Fekrvand S, Mohtashami M, Sanadgol N, Salehi H, Fard NNG, Afkham EK, Chavoshzadeh Z, Parvaneh N, Mahdaviani SA, Sharafian S, Barzamini S, Ahanchian H, Kalantari A, Shafiei A, Tavakol M, Abolnezhadian F, Rad MK, Hassanpour G, Cheraghi T, Farid AS, Delavari S, Abolhassani H, Rezaei N, Yazdani R.   +23 more
europepmc   +1 more source

Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy. [PDF]

Mol Genet Metab Rep
Guertin A, Khanna RK, Tardieu M, François M, Blasco H, de Bretagne IB, Benoist JF, Bigot A, Tressel N, Maillot F, Labarthe F.   +10 more
europepmc   +1 more source

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Adventures With Parasites, Metabolism, Inborn Errors, and Cancer: The 2023 Lasker-Koshland Special Achievement Award in Medical Science.

Journal of the American Medical Association (JAMA), 2023
In this Viewpoint, Lasker Award winner Piet Borst looks back over a 50-year career in scientific research, including work with trypanosomatids, mechanisms of drug resistance in cancer cells, and inborn errors of metabolism.
Piet Borst
semanticscholar   +1 more source

Movement Disorders in Treatable Inborn Errors of Metabolism

Movement Disorders, 2019
There are several hundred single‐gene disorders that we classify as inborn errors of metabolism. Inborn errors of metabolism are often rare and highly heterogeneous multisystem diseases with non‐neurological and neurological manifestations, commonly with
D. Ebrahimi‐Fakhari, C. V. van Karnebeek, A. Münchau   +2 more
semanticscholar   +1 more source

Incidence of inborn errors of metabolism detected by tandem mass spectrometry in China: A census of over seven million newborns between 2016 and 2017

Journal of Medical Screening, 2020
Background The incidence of inborn errors of metabolism varies widely across countries. Very few studies have analyzed the incidence of these disorders in Mainland China.
Kui Deng, Jun Zhu, Erling Yu, L. Xiang, Xuelian Yuan, Yongna Yao, Xiaohong Li, Hanmin Liu   +7 more
semanticscholar   +1 more source

The diagnosis of inborn errors of metabolism by an integrative “multi‐omics” approach: A perspective encompassing genomics, transcriptomics, and proteomics

Journal of Inherited Metabolic Disease, 2020
Given the rapidly decreasing cost and increasing speed and accessibility of massively parallel technologies, the integration of comprehensive genomic, transcriptomic, and proteomic data into a “multi‐omics” diagnostic pipeline is within reach.
S. L. Stenton, Laura S. Kremer, R. Kopajtich, C. Ludwig, H. Prokisch   +4 more
semanticscholar   +1 more source

The multiple facets of acetyl-CoA metabolism: Energetics, biosynthesis, regulation, acylation and inborn errors.

Molecular Genetics and Metabolism, 2022
Youlin Wang, Hao Yang, Chloé Geerts, A. Furtos, P. Waters, D. Cyr, Shupei Wang, G. Mitchell   +7 more
semanticscholar   +1 more source

Inborn errors of purine and pyrimidine metabolism: A guide to diagnosis.

Molecular Genetics and Metabolism, 2022
A. Jurecka, A. Tylki-Szymańska
semanticscholar   +1 more source

Human medicines European public assessment report (EPAR): Kanuma, sebelipase alfa, Lipid Metabolism, Inborn Errors, Date of authorisation: 28/08/2015, Revision: 3, Status: Authorised

Case Medical Research, 2019

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When Should You Adjust Standard Errors for Clustering?

Quarterly Journal of Economics, 2022
exaly