Results 71 to 80 of about 3,527 (133)

A Machine Learning Approach to Differentiate Congenital and Transient Neonatal Hyperammonemia: A 10-Year Case Series. [PDF]

Cureus
Frankevich N, Tokareva A, Makieva M, Mikhailova O, Akhapkina E, Frankevich V.   +5 more
europepmc   +1 more source

Optimizing gene prioritization for clinical diagnosis of metabolic genetic disorders. [PDF]

PLoS One
de Albuquerque BHDR, Lanza DCF.
europepmc   +1 more source

Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism. [PDF]

JIMD Rep
Selvanathan A, Nazir S, van Wyk K, Simpson E, Holmes V, Hutton R, White F, Schwahn BC.   +7 more
europepmc   +1 more source

Foods for special medical purposes for the dietary therapy of rare diseases: Current status and future prospects. [PDF]

Intractable Rare Dis Res
Zhang T, Wang Y, Shi C, Zi Y, Cai W, Zhong J.   +5 more
europepmc   +1 more source

Comparative Analysis of Dietary Patterns in Children With Phenylketonuria Phenotypes and Controls: Implications for Nutritional Status. [PDF]

J Inherit Metab Dis
Garcia-Arenas D, Ormazabal A, Isern P, Barrau-Martinez B, Gonzalez-Rodriguez A, Tor-Roca A, Llorach R, Campistol-Plana J, Urpi-Sarda M, Consortium PKU.cat..   +9 more
europepmc   +1 more source

McArdle disease (Glycogen Storage Disease Type V) from an exercise physiology and biochemistry perspective: Important considerations for exercise and physical activity testing and data interpretation. [PDF]

Sports Med Health Sci
Torrens SL, Parr E, Robergs R, Nalos M, Phillips L, Finnigan P, Voermans N.   +6 more
europepmc   +1 more source

Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review. [PDF]

Metabolites
Majewska E, Zdort Z, Ochocka A, Paprocka J.   +3 more
europepmc   +1 more source

A Gut Feeling: An Exploratory Multi-Omics Study of Gut Microbiome Dysbiosis and Metabolome and Lipidome Alterations in GATA2 Deficiency. [PDF]

Int J Mol Sci
Roncareggi S, Fioredda F, Girardi K, Serrao S, Capitoli G, Fumagalli R, Nobile M, Fazio G, Guerra F, Valsecchi MG, Rebellato S, Casillo M, Fantuz MR, Savarese G, Paglia G, Gambineri E, Balduzzi AC, Biondi A, Saettini F, Italian GATA2 Study Group.   +19 more
europepmc   +1 more source

The influence of menstrual cycle on metabolic control and diet in patients with phenylketonuria. [PDF]

Orphanet J Rare Dis
Horka L, Landolt K, Erlic Z, Rimann N, Cremonesi A, Hochuli M, Beuschlein F.   +6 more
europepmc   +1 more source

Mitochondrial dysfunction in methylmalonic acidemia: A pilot study using Seahorse technology in peripheral blood. [PDF]

Mol Genet Metab Rep
Stanescu S, Villate O, Andrade F, Gonzalez-Lamuño D, Bélanger-Quintana A, Arrieta F, Couce ML, Muriel A, Aldamiz-Echevarria L.   +8 more
europepmc   +1 more source