Results 101 to 110 of about 4,590,707 (207)

Correction: Mothers’ lived experience of caring for children with inborn errors of amino acid metabolism

BMC Pediatrics, 2023
Sara Shirdelzade, Monir Ramezani, Peyman Eshraghi, Abbas Heydari   +3 more
doaj   +1 more source

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno, Laura Cinque, Viviana Cetrangolo, Chiara De Leonibus   +3 more
wiley   +1 more source

Screening Mentally Retarded Children for Inborn Errors of Metabolism

, 2017
Background: Most inborn errors of metabolism result in mental retardation and death due to accumulation of abnormal metabolites in the tissues. The presence of abnormal metabolites in the urine of mentally retarded individuals has been used worldwide for
Naveen K. Shreevastava, Arti S. Pandey
core   +1 more source

Profile of inborn errors of metabolism among the neonates admitted in special newborn care unit of a tertiary care hospital

Asian Journal of Medical Sciences
Background: Inborn errors of metabolism (IEM) refer to a group of hereditary disorders that occur due to the disruption of normal biochemical processes in the body. Although the incidence of IEM is rare, together their incidence is more than 1:1000.1 IEM
Kushal Mandal , Sushama Sahoo , Sarbani Misra , Bharat Lal Kisku   +3 more
doaj   +1 more source

Inborn Errors of Ketone Body Metabolism and Transport: An Update for the Clinic and for Clinical Laboratories

, 2018
Major progress occurred in understanding inborn errors of ketone body transport and metabolism between the International Congresses on Inborn Errors of Metabolism in Barcelona (2013) and Rio de Janeiro (2017).
Grant A. Mitchell MD, Jörn Oliver Sass Dr. rer. nat., Grant A. Mitchell, Mitchell, Grant A., Jörn Oliver Sass, Fukao,Toshiyuki, Fukao, Toshiyuki, Sass,Jörn Oliver, Sass, Jörn Oliver, Toshiyuki Fukao MD, PhD, Toshiyuki Fukao, Mitchell,Grant A.   +11 more
core   +1 more source

A Great Catch for Investigating Inborn Errors of Metabolism—Insights Obtained from Zebrafish

, 2020
Inborn errors of metabolism cause abnormal synthesis, recycling, or breakdown of amino acids, neurotransmitters, and other various metabolites.
Shunmoogum A. Patten, Maximilian Breuer
core   +1 more source

Tracking Sodium Inside the Plant: Hydraulic Adjustments to Deal With Salinity

Journal of Agronomy and Crop Science, Volume 212, Issue 6, November 2026.
ABSTRACT Sorghum is a crop that has become more relevant in recent years due to its uses and properties (biofuel, gluten‐free flour) as well as its versatility to grow in unfavourable environmental conditions. Salinity is one of the main abiotic stresses affecting crop production and yield worldwide.
Moira R. Sutka, Pablo D. Cáceres, Marina Recchi, Andrea S. Dengis, Milena E. Manzur   +4 more
wiley   +1 more source

Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience

JIMD Reports
Background Classic homocystinuria (HCU) is a rare inborn metabolic disease that is generally asymptomatic at birth. If untreated, it can cause a wide range of complications including intellectual disability, lens dislocation, and thromboembolism.
Ahmed Sarar Mohamed, Talal AlAnzi, Amal Alhashem, Hadeel Alrukban, Fahad Al Harbi, Sarar Mohamed   +5 more
doaj   +1 more source

Inborn Errors of Metabolism

, 2016
Inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of the body. Although these disorders are individually rare, collectively they account for a significant portion of childhood disability and ...
Ezgu, FATİH SÜHEYL, Fatih Ezgu
core   +1 more source

Mitochondria‐Targeted Nanotherapeutics: A Promising Strategy in Modulating Mitochondrial Function, Transfer, and Transplantation

Advanced Science, Volume 13, Issue 58, 19 October 2026.
This review summarizes the pathogenic role of mitochondria in diseases and highlights mitochondrial transfer and transplantation as emerging therapeutic strategies. It systematically discusses how nanomaterials are engineered to facilitate these processes, and critically examines the current challenges and future perspectives for their clinical ...
Yuanyuan Su, Zhiyan Gong, Jiao Mu, Lili Huang, Pengfei Yang, Chenli Zhang, Lingshan Zhao, Liling Yang, Jun Deng, Xiaohui Liao   +9 more
wiley   +1 more source