Results 141 to 150 of about 2,214,124 (236)

Cryptococcal Meningitis Revealing Late-Onset Combined Immunodeficiency After Two Decades of Recurrent Infections: A Case Report. [PDF]

Cureus
Martínez Evangelista VJ, Munoz Plascencia S, Cárdenas-Favela JC, Correa Serrano CA.   +3 more
europepmc   +1 more source

Ocular Manifestations of Inborn Errors of Carbohydrate and Lipid Metabolism (Bibliotheca Ophthalmologica No. 84) [PDF]

British Journal of Ophthalmology, 1976
openaire   +1 more source

Amino Acid Deficiency Secondary to Continuous Venovenous Hemofiltration in Acute Decompensation of Organic Acidemias: An Anabolic Dead End? [PDF]

Crit Care Explor
Grosyeux C, Cammiciotto N, Jeannesson E, Feigerlova E, Villada V, Wicker C, Levy M, Schiff M, Imbard A, Coelho D, Feillet F, Wiedemann A.   +11 more
europepmc   +1 more source

Expanded Newborn Screening Metabolites as Potential Biomarkers of Extrauterine Growth Restriction in Very-Low-Birth-Weight Preterm Infants. [PDF]

Nutrients
Scaglione M, Calevo MG, Pessano S, Perri FN, Mariani S, Massirio P, Cassanello M, Perrone Donnorso M, Sondo E, Malova M, Schiaffino MC, Maghnie M, Ramenghi LA.   +12 more
europepmc   +1 more source

A systematic approach to MR spectroscopy of the brain: Indications, protocol, metabolites, and spectral analysis in neurologic diseases. [PDF]

Neuroradiol J
Rahman SM, Peng A, Si K, Kenny-Howell CL, Singh M, Asif MA, Rahman SZ, Rahmani S, Pasquini L, Adin M, Schrickel E, Tu LH.   +11 more
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

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

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

Health-Related Coping Behaviors Among Parents of Children with Inborn Errors of Metabolism: A Survey by Dietary Therapy, Child Age, and Diagnostic Category. [PDF]

Int J Neonatal Screen
Matsumoto Y, Kushihashi Y, Suwa A, Tajima G.   +3 more
europepmc   +1 more source