Results 1 to 10 of about 1,425 (92)

A novel homozygous SLC39A14 variant in an infant with hypermanganesemia and a review of the literature

Frontiers in Pediatrics, 2023
BackgroundManganese (Mn) is an essential trace metal necessary for good health; however, excessive amounts in the body are neurotoxic. To date, three genes (SLC30A10, SLC39A8, and SLC39A14) have been discovered to cause inborn errors in Mn metabolism in ...
Meijiao Zhang, Liping Zhu, Huiping Wang, Ying Hao, Qingping Zhang, Chunyan Zhao, Xinhua Bao   +6 more
doaj   +1 more source

Endocrine manifestations related to inherited metabolic diseases in adults

Orphanet Journal of Rare Diseases, 2012
Most inborn errors of metabolism (IEM) are recessive, genetically transmitted diseases and are classified into 3 main groups according to their mechanisms: cellular intoxication, energy deficiency, and defects of complex molecules. They can be associated
Vantyghem Marie-Christine, Dobbelaere Dries, Mention Karine, Wemeau Jean-Louis, Saudubray Jean-Marie, Douillard Claire   +5 more
doaj   +1 more source

Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism. [PDF]

Tremor Other Hyperkinet Mov (N Y), 2023
Ortigoza-Escobar JD.
europepmc   +1 more source

A pragmatic approach to the diagnosis of inborn errors of metabolism in developing countries. [PDF]

Afr J Lab Med, 2023
Anetor JI, Orimadegun BE, Anetor GO.
europepmc   +1 more source

Modelling the Transference of Paediatric Patients with Inborn Errors of Metabolism to Adult Hospitals: Clinical Experience. [PDF]

J Clin Med
Deudero A, Lasheras E, Ventura R, Montserrat-Carbonell C, Milisenda JC, Juliá-Palacios N, Matas A, Forga-Visa MT, López-Galera RM, García-Villoria J, Placeres M, Pané A, Garrabou G, Ribes A, Cardellach F, Moreno-Lozano PJ, Garcia-Cazorla À, Campistol J, Iem-Sjd-Hcb Consortia.   +18 more
europepmc   +1 more source

Imaging the Future: Diagnosing Treatable Neurometabolic Disorders in Children. [PDF]

Cureus
Eda IR, Ramachandran R, Joseph VM, Marreddy S, Mounika A.   +4 more
europepmc   +1 more source

Timing and Indications for Liver Transplantation for Children with Chronic Liver Disease. [PDF]

Children (Basel)
Suthantirakumar RL, Gupte GL.
europepmc   +1 more source

Hormonal Crossroads in Inborn Errors of the Metabolism Impact of Puberty and Dietary Interventions on Metabolic Health. [PDF]

Metabolites
Lundqvist T, Stenlid R, Halldin M.
europepmc   +1 more source

Clinical and biochemical characterization of a patient with prolidase deficiency, a rare disorder of collagen metabolism. [PDF]

Mol Genet Metab Rep
Coody TK, De Biase I, Porter JM, Pasquali M, Shayota BJ.   +4 more
europepmc   +1 more source

Proposal to Screen for Zinc and Selenium in Patients with IgA Deficiency. [PDF]

Nutrients, 2023
Abu Jamra SR, Komatsu CG, Barbosa F, Roxo-Junior P, Navarro AM.   +4 more
europepmc   +1 more source