Results 41 to 50 of about 2,606 (136)
The Homeobox Genes: Classification, Regulation, Biological Functions, and Diseases
Overview of the homeobox gene superfamily and its pathophysiological roles. The homeobox superfamily comprises several major classes, including ANTP, PRD, TALE, LIM, POU, and others. Among these, the HOX clusters (A–D) play critical roles in embryonic development specifically in conferring cellular identity, regulating morphogenesis, and guiding axial ...
Maedeh Dadzadi +5 more
wiley +1 more source
The return of metabolism: biochemistry and physiology of glycolysis
ABSTRACT Glycolysis is a fundamental metabolic pathway central to the bioenergetics and physiology of virtually all living organisms. In this comprehensive review, we explore the intricate biochemical principles and evolutionary origins of glycolytic pathways, from the classical Embden–Meyerhof–Parnas (EMP) pathway in humans to various prokaryotic and ...
Nana‐Maria Grüning +19 more
wiley +1 more source
Rising Inpatient Demands for Inherited Metabolic Disorders: Impact on Pediatric Capacity
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1423-1426, June 2026.
Maria Paula Silva +7 more
wiley +1 more source
ABSTRACT Background Post‐stroke gastroparesis (GP) is a debilitating complication that severely impairs quality of life. Although abdominal acupuncture is widely used, robust evidence regarding its efficacy, particularly concerning the critical parameter of the needling depth, is still lacking.
Xiangcheng Wei +8 more
wiley +1 more source
LABRAD : Vol 46, Issue 3 - May 2021 [PDF]
Laboratory Diagnostic Tools for HIV in Neonates and Infants Intussusception in Pediatric Patients: Role of Radiology in Diagnosis and Management Fecal Calprotectin as an Inflammatory Marker in Inflammatory Bowel Disease Spectrum of Tools for the ...
Aga Khan University Hospital, Karachi
core +1 more source
Regulated acid-base transport in the collecting duct [PDF]
The renal collecting system serves the fine-tuning of renal acid-base secretion. Acid-secretory type-A intercalated cells secrete protons via a luminally expressed V-type H+-ATPase and generate new bicarbonate released by basolateral chloride/bicarbonate
Bourgeois, Soline +3 more
core
Amino Acids Profiling for the Diagnosis of Metabolic Disorders [PDF]
Inborn errors of metabolism (IEM) represent a group of inherited diseases in which genetic defect leads to the block on a metabolic pathway, resulting in a single enzyme dysfunction.
Sandlers, Yana
core +2 more sources
Bases moleculars de la cistinúria [PDF]
Els cDNA identificats actualment de transportadors d'aminoàcids en mamífers poden ser agrupats en quatre famílies. Una d'aquestes famílies la componen les proteïnes rBAT i la cadena pesada (hc) de l'antigen de superfície de membrana anomenat 4F2. Els RNA
Barceló, P. +14 more
core
LABRAD : Vol 39, Issue 2 - December 2013 [PDF]
Diagnosis of Inborn Errors of Metabolism in Pakistan Inherited Metabolic Disorders-Presenting as Metabolic Emergencies Role of Biochemical Genetics Laboratary in Evaluation of IEM Amino Acid Chromatography for the Diagnosis of Inborn Error of Metabolism ...
Aga Khan University Hospital, Karachi
core +1 more source
Single amino acid supplementation in aminoacidopathies:a systematic review [PDF]
Aminoacidopathies are a group of rare and diverse disorders, caused by the deficiency of an enzyme or transporter involved in amino acid metabolism. For most aminoacidopathies, dietary management is the mainstay of treatment.
de Groot, Martijn J. +6 more
core +2 more sources

