Results 291 to 300 of about 36,711 (394)

Effectiveness of Pyridoxal‐5′‐Phosphate in PNPO Deficiency: A Systematic Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Pyridox(am)ine 5′‐phosphate oxidase (PNPO) deficiency is an ultrarare inherited neurometabolic disease, characterized by primarily neonatal‐onset B6‐responsive epileptic encephalopathies. Treatment often requires sustainable access to high‐quality pyridoxal‐5′‐phosphate (PLP, i.e., active vitamin B6), although some patients (also) respond to ...
Nina N. Stolwijk, Laura van Dussen, Niels D. Reijnhout, Marion M. M. G. Brands, Bregje Jaeger, Peter T. Clayton, Carla E. M. Hollak, Annet M. Bosch   +7 more
wiley   +1 more source

Expanding the Phenotypic Spectrum of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency in Childhood: A Case Series. [PDF]

Clin Case Rep
Loftus E, Elbishari Z, Fitzsimons P, Howard C, Sheikh Y, Lynch B, Crushell E, Knerr I.   +7 more
europepmc   +1 more source

Personalized Genome‐Scale Modeling Reveals Metabolic Perturbations in Fibroblasts of Methylmalonic Aciduria Patients

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Cobalamin (vitamin B12) is an essential cofactor for two human enzymes, methionine synthase and methylmalonyl‐CoA mutase. Inborn errors of cobalamin metabolism (IECMs) are inherited genetic defects resulting in improper transport, modification, or utilization of cobalamin and include inherited methylmalonic acidurias, a group of IECMs most ...
Almut Heinken, Hussein Awada, Vito R. T. Zanotelli, D. Sean Froese, Rosa‐Maria Guéant‐Rodriguez, Jean‐Louis Guéant   +5 more
wiley   +1 more source

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat! [PDF]

J Inherit Metab Dis
den Hollander B, Hoytema van Konijnenburg EMM, Hewitson B, van der Meijden JC, Balfoort BM, Winter B, Müller AR, Wasserman WW, Ferreira CR, van Karnebeek CD.   +9 more
europepmc   +1 more source

Neonatal Hyperammonemia Due to Ureaplasma Sepsis

Annals of the Child Neurology Society
Catherine A. Kronfol, Aaron W. Hocher, E. Steve Roach   +2 more
doaj   +1 more source

Liver homotransplantation [PDF]

, 1977
Putnam, CW, Starzl, TE
core  

The Intergenerational Impact of Maternal Childhood Adversity on Child Behavior and Neurodevelopment: The Healthy MiNDS Protocol

International Journal of Methods in Psychiatric Research, Volume 34, Issue 3, September 2025.
ABSTRACT Objectives Here we present Healthy MiNDS, a cohort of mothers and their newborns in São Paulo, Brazil, designed to investigate how maternal adverse childhood experiences (ACEs) intergenerationally affect child behavior and neurodevelopment, while exploring underlying biological mechanisms. Methods The study included seven encounters, beginning
Danilo Micali, Ana Carolina Coelho Milani, Camilla Salmeron, Célia Araújo, Aline Camargo Ramos, Marcos Roberto Fanton, Sara B. VanBronkhorst, Nitamar Abdala, Ivaldo Silva, Sintia Iole Belangero, Cristiane S. Duarte, Jonathan Posner, Andrea Parolin Jackowski   +12 more
wiley   +1 more source

Updated Gene Therapy for Renal Inborn Errors of Metabolism. [PDF]

Genes (Basel)
Hergenrother S, Husein M, Thompson C, Kalina E, Raina R.   +4 more
europepmc   +1 more source

Physical activity during pregnancy stratified by body mass index: A focus on class 3 obesity

Pregnancy, Volume 1, Issue 5, September 2025.
Abstract Introduction The prevalence of pre‐pregnancy obesity, including pre‐pregnancy class 3 obesity, has increased over time, with significant implications for maternal and neonatal well‐being. Regular physical activity may mitigate these risks.
Eliza M. Nguyen, Megan E. Branda, Linda M. Szymanski   +2 more
wiley   +1 more source