Results 251 to 260 of about 45,424 (315)

Purine Metabolism and Dystonia: Perspectives of a Long‐Promised Relationship

Annals of Neurology, EarlyView.
Purine pool imbalance in purine metabolism disorders, such as Lesch–Nyhan disease, intersects with dystonia pathogenesis. The recent discovery of gain‐of‐function IMPDH2 pathogenic variants in patients with prominent dystonic manifestations provides new insights into the link between dystonia and purinergic system defects.
Ugo Sorrentino, Audrey G. O'Neill, Justin M. Kollman, Hyder A. Jinnah, Michael Zech   +4 more
wiley   +1 more source

Relation between dysbiosis and inborn errors of immunity.

World J Methodol
Özdemir Ö.
europepmc   +1 more source

Humoral and cell-mediated immune responses to COVID-19 vaccines up to 6 months post three-dose primary series in adults with inborn errors of immunity and their breakthrough infections. [PDF]

Front Immunol
Unninayar D, Falcone EL, Chapdelaine H, Vinh DC, Top KA, Derfalvi B, Issekutz TB, Decaluwe H, Pham-Huy A, Upton J, Betschel SD, Rubin T, Suresh S, Wright NAM, Murguía-Favela L, Kalashnikova T, Barrett L, Oldford S, Langlois MA, Arnold C, Sadarangani M, Zhang T, Ramsay T, Yazji D, Cowan J.   +24 more
europepmc   +1 more source

Prevalence of pathogenic variants of inborn errors of immunity in critically ill children admitted to the pediatric intensive care unit for sepsis: A Moroccan cohort study. [PDF]

Tunis Med
Aissaoui O, Moundir A, Drissi Boughanbour A, El Bakkouri J, Benhsaien I, Ailal F, Chlilek A, Jouanguy E, Casanova JL, Bousfiha AA.   +9 more
europepmc   +1 more source

Complications of the Bacillus Calmette-Guerin vaccine as an early warning sign of inborn errors of immunity: a report of 197 patients. [PDF]

Front Immunol
Fazlollahi MR, Goudarzi A, Nourizadeh M, Alizadeh Z, Tajik S, Badalzadeh M, Sarafzadeh SA, Mahlooji Rad M, Adab Z, Moradi L, Razaghian A, Sabetkish N, Pourpak Z, Moin M.   +13 more
europepmc   +1 more source

Postcranial anomalies of Eocene freshwater pleurodiran and cryptodiran turtles from the Spanish Duero Basin

The Anatomical Record, EarlyView.
Abstract Testudines are one of the best‐represented taxonomic groups among the Paleogene taxa of the Duero Basin (Castile and Leon Autonomous Community, central Spain). Among them, Neochelys (Podocnemidide) and Allaeochelys (Carettochelyidae) are most abundant, allowing the population to be assessed for osteological anomalies.
Andrea Guerrero, Francisco Ortega, Santiago Martín de Jesús, Adán Pérez‐García   +3 more
wiley   +1 more source

AminoApp: The First Brazilian Application for Dietary Monitoring of Inborn Errors of Metabolism in Patients on a Low-Protein Diet. [PDF]

Healthc Inform Res
Franceschetto BF, Orlandi JM, Rosa WC, Scortegagna ML, Farret L, Schwartz IVD, Poloni S.   +6 more
europepmc   +1 more source

Genomic Evaluation of Recombination in Small Highly Inbred Beef Cattle Populations

Animal Research and One Health, EarlyView.
The study characterizes recombination in small beef cattle populations, revealing higher rates in CGC composites compared to inbred Line 1 Herefords. It identifies significant SNP associations linked to recombination across various autosomes, highlighting complex polygenic influences, with implications for genetic diversity and breeding strategies ...
E. Hay, A. S. Ling
wiley   +1 more source

Understanding neonatal unit interventions and breastfeeding outcomes in two hospitals in Ghana to facilitate optimization of newborn care. [PDF]

BMC Pediatr
Onwona-Agyeman K, Abdul-Mumin A, Srinivas GL, Atitsogbui E, Abrokwah JB, Kyei-Manu AG, Kanamu MH, Kpiniong MJ, Narayanan I.   +8 more
europepmc   +1 more source