Results 81 to 90 of about 171,422 (307)

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Ruminal metabolic acidosis

, 1981
Ruminal acidosis is a metabolic disease of cattle, sheep and possibly other ruminants which is characterized by ruminal and generalized systemic acidosis resulting in anorixia, weakness, prostration, coma and frequently death.
Jimmy L. Howard, Howard, Jimmy L.
core   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Metformin associated lactic acidosis

, 2019
This resource is a database of published case reports of metformin associated lactic acidosis. The database comprises of demographic and clinical data extracted from each identified case of metformin associated lactic acidosis, including: article details,
Stephen Duffull (6660085), Robert Walker (4207795), Daniel Wright (6660078), Ruth Savage (6660089), Isabelle Kuan (6660059)   +4 more
core   +1 more source

Gut Health in Ostriches (Struthio camelus): Insights Into Intestinal Structure, Functions, Microbiome, and Improvement Strategies

Animal Research and One Health, EarlyView.
Our paper systematically reviews the intestinal structure, function, and microbiota of ostriches, along with strategies for improving their gut health. We analyze how these factors collectively influence intestinal homeostasis and ostrich welfare, emphasizing probiotics as a promising intervention to enhance gut health, boost population well‐being, and
Zi‐Qun Zhang, Fang‐Fang Guo, Wen‐Juan Du, Meng Li, Aftab Shaukat, Zhu‐Qing Jia, Shu‐Cheng Huang   +6 more
wiley   +1 more source

Basic Interpretation of Metabolic Acidosis

, 2010
What are the basic concepts of acid-base balance, the 2 types of metabolic acidosis, and the common causes of each type of metabolic acidosis?
Melissa Beaudet Jones
core   +1 more source

Age‐related differences in hydroxychloroquine‐associated adverse events: A pharmacovigilance study based on the FDA Adverse Event Reporting System

British Journal of Clinical Pharmacology, EarlyView.
Aims This real‐world pharmacovigilance study utilizes FDA Adverse Event Reporting System (FAERS) data (2004–2024) to characterize age‐related disparities in hydroxychloroquine (HCQ)‐associated adverse events (AEs), addressing gaps in age‐stratified risk assessment. Methods Disproportionality analysis (reporting odds ratios, RORs) and parametric Weibull
Guanghan Sun, Jingrong Yang, Lei Wan, Xia Xu, Jing Wang   +4 more
wiley   +1 more source

Pseudo-Renal Tubular Acidosis: Conditions Mimicking Renal Tubular Acidosis [PDF]

, 2018
Hyperchloremic metabolic acidosis, particularly renal tubular acidosis, can pose diagnostic challenges. The laboratory phenotype of a low total carbon dioxide content, normal anion gap, and hyperchloremia may be misconstrued as hypobicarbonatemia from ...
Uduman, Junior, Yee, Jerry
core   +1 more source