Clinical and genetic profile of a cohort of pyridoxamine 5-Phosphate oxidase deficiency – A single-center experience [PDF]
, 2018 Waseem Fathalla +3 more
openalex +1 more source
Driving Triple‐Bottom‐Line Value: Networks and Impacts in South Africa's Emerging Game Meat Industry
Journal of International Development, Volume 38, Issue 1, Page 1-11, January 2026.ABSTRACT The current game meat industry value chain analysis focuses primarily on individual firm analysis, production costs and mapping of illegal and legal game meat trade routes. Although there is an attempt to demonstrate the sector's potential contribution to conservation, food security, and livelihood improvement, it remains unclear how the ...
Wiseman Ndlovu +1 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Inherited metabolic disorders (IMDs) encompass a diverse and expanding group of rare diseases caused by genetic disruptions mainly in metabolic enzymes and transporters. Clinical diagnosis of IMDs presents significant challenges due to phenotypic heterogeneity, nonspecific symptoms, and the limited scope of current targeted biochemical assays ...
Jonathan Martens +4 more
wiley +1 more source
Sterol uptake induced by an impairment of pyridoxal phosphate synthesis in Saccharomyces cerevisiae: cloning and sequencing of the PDX3 gene encoding pyridoxine (pyridoxamine) phosphate oxidase [PDF]
, 1995 A Loubbardi +3 more
openalex +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Our research aimed to model primary hyperoxaluria type 1 in vitro using a stem cell model and assess the potential of adenine base editors in correcting the most common pathogenic AGXT genetic variant, c.508G>A (Gly170Arg), which leads to oxalate accumulation due to alanine‐glyoxylate aminotransferase mislocalization.
Timo Keskinen +9 more
wiley +1 more source
Pyridoxamine Reverts Methylglyoxal‐induced Impairment of Survival Pathways During Heart Ischemia [PDF]
, 2013 Filipa Almeida +7 more
openalex +1 more source
Efzimfotase Alfa Improves Respiratory Capacity in Muscle Tissue From a Mouse Model of HPP
JIMD Reports, Volume 67, Issue 1, January 2026.ABSTRACT Hypophosphatasia (HPP) is an inherited metabolic disease caused by deficient tissue‐nonspecific alkaline phosphatase (ALP) activity and characterized by skeletal and nonskeletal symptoms, including muscle weakness and fatigue. We hypothesized that mitochondrial respiration is impaired in muscle in HPP, independent of skeletal manifestations ...
Denise Devore +10 more
wiley +1 more source
The effects of vitamin B in depression [PDF]
, 2016 Apostolopoulos, Vasso +2 more
core +1 more source
Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis
JIMD Reports, Volume 67, Issue 1, January 2026.ABSTRACT Molybdenum cofactor deficiency (MoCD) is an inborn error of metabolism included in the differential for refractory neonatal seizures. The prognosis is guarded, with a median reported age of death between 2.4 and 3.0 years. Mortality is primarily due to seizures and lower respiratory tract infections.
Molly M. Crenshaw +11 more
wiley +1 more source