Results 101 to 110 of about 10,064 (198)

The invisible emergencies: metabolic and neuro-critical disorders often missed in the pediatric ED - a narrative review. [PDF]

Int J Emerg Med
Abady E, Karam KN, Khaleel SQ, Kuhn K, Tamvakologos P, Mathew KT.   +5 more
europepmc   +1 more source

Glutamatergic Neurotransmission Disruption as a Pathomechanism of Brain Damage in Disorders of Amino Acid and Organic Acid Metabolism: Insights from Animal and Cellular Studies. [PDF]

Neurochem Res
Marcuzzo MB, Benati MPDV, Souza DO, Wajner M, Leipnitz G.   +4 more
europepmc   +1 more source

Multi-Omics Characterization of a Novel <i>SSR4</i> Variant in Congenital Disorders of Glycosylation. [PDF]

Metabolites
Abu Bakar N, Hamzan NI, Majawit EM, Ahmad Ridzuan SN, Hassan NH, Habib A, Ngu LH.   +6 more
europepmc   +1 more source

Inborn Errors of Amino acid Metabolism

SEIKATSU EISEI (Journal of Urban Living and Health Association), 1981
openaire   +1 more source

Immune Dysregulation in Branched Chain Organic Acidemias. [PDF]

J Inherit Metab Dis
Shakerdi AL, Drda J, Dutta JA, Vockley J.   +3 more
europepmc   +1 more source

Mass Spectrometry-Based Metabolomics in Pediatric Health and Disease. [PDF]

Metabolites
Sahu D, Matusa AM, DiBattista A, Urquhart BL, Fraser DD.   +4 more
europepmc   +1 more source

Case Report: A case series of using whole exome sequencing to detect novel variants in Vietnamese patients with inborn errors of immunity. [PDF]

Front Genet
Kim Lien NT, Van Tung N, Minh Huong LT, Van Anh NT, Phuong Mai NT, Dien TM, Hien NT, Tao NT, Hoang NH.   +8 more
europepmc   +1 more source

Body composition in adults with phenylketonuria: A 5 years follow-up study. [PDF]

Mol Genet Metab Rep
Franceschetto BF, Moutapam-Ngamby-Adriaansen Y, Tressel N, de Luca A, Schiff M, Poloni S, Schwartz IVD, Maillot F.   +7 more
europepmc   +1 more source

A new frame shift pathogenic variant (c.773dupT) in the <i>BCKDHB</i> gene caused MSUD in an infant from north of Iran. [PDF]

Case Rep Perinat Med
Jalali H, Zamanfar D, Rahimi M, Mokhtari H, Ghorbani F, Mahdavi MR.   +5 more
europepmc   +1 more source

Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry. [PDF]

Int J Neonatal Screen
Yahyaoui R, Quijada-Fraile P, Blasco-Alonso J, Vives I, Gil Ortega D, Couce ML, Sánchez-Pintos P, García Jiménez MC, Meavilla Olivas S, García Volpe C, de Los Santos Mercedes M, García-Cazorla Á, Felipe-Rucián A, Dougherty-de Miguel L, Morais López A, Bergua Martínez A, Andrade Guerrero JD, Stanescu S, Belanger A, Gil-Campos M, Comino Monroy MJ, Bellusci M, Pérez-Mohand P, Barrio-Carreras D, Pérez B, Martín-Hernández E.   +25 more
europepmc   +1 more source