Results 71 to 80 of about 2,125,068 (305)

Long‐Acting Therapeutics in Pediatric Health: Bridging Innovation and Access

Clinical Pharmacology &Therapeutics, EarlyView.
Children have distinct therapeutic needs arising from age‐dependent physiology, disease epidemiology, formulation requirements, dosing considerations, and safety vulnerabilities. Despite substantial reductions in childhood mortality over the past three decades, nearly 5 million children under five died in 2023, with infectious diseases continuing to ...
Prajith Venkatasubramanian, Moherndran Archary, Daniel B. Hawcutt, Rachel Daley, Edmund Capparelli, Adeniyi Olagunju   +5 more
wiley   +1 more source

Evaluation of the PP6D5 Polymer as a Novel Non-Viral Vector in the Development of a CRISPR/nCas9-Based Gene Therapy for Tay–Sachs Disease

Pharmaceutics
Background/Objectives: Tay–Sachs disease (TSD) is a neurodegenerative disorder caused by a deficiency in β-hexosaminidase A (HexA), which accumulates GM2 gangliosides, primarily in neurons.
Jacky M. Guerrero-Vargas, Diego A. Suarez-Garcia, Andrés F. Leal, Ivonne L. Diaz-Ariza, León D. Pérez-Pérez, Angela J. Espejo-Mojica, Carlos J. Alméciga-Díaz   +6 more
doaj   +1 more source

Reverse Phase-High Performance Liquid Chromatography: An Alternative to Expensive Tandem Mass Spectrometry Screening for Amino Acid Profiling in Dried Blood Spot in Resource Constrained Diagnostic Settings [PDF]

Journal of Krishna Institute of Medical Sciences University, 2021
Background: Altered patterns of amino acid profiles are observed in various pathological conditions including nutrition related disorders, cancer, diabetes, urea cycle defects, mitochondrial respiratory chain disorders, and aminoacidopathies.
Prajna P Shetty , Ysphaneendramallimoggala , Brijesh Naik , Leslie Lewis , Nalini K , Pragna Rao   +5 more
doaj  

Incidence of inborn errors of metabolism: results of newborn screening program in North-East Italy

, 2001
Incidence of inborn errors of metabolism: results of newborn screening program in North-East ...
Tatò L., MAFFEIS, Claudio, Micciolo R, ZAFFANELLO, Marco, CAMILOT, Marta   +4 more
core   +1 more source

Pharmacokinetics of Rifapentine and Desacetyl Rifapentine in Maternal Plasma and Breast Milk & Infant Cord Blood and Plasma: A Model‐Based Analysis of Mother–Infant Pairs for Tuberculosis Prevention

Clinical Pharmacology &Therapeutics, EarlyView.
IMPAACT 2001 (NCT02651259) evaluated the safety and pharmacokinetics (PK) of once‐weekly isoniazid and rifapentine in pregnant and postpartum women for tuberculosis prevention. Rifapentine (RPT) and desacetyl rifapentine (desRPT) PK data were collected in maternal plasma, breast milk, infant cord blood, and infant plasma.
Priya Jayachandran, Jyoti S. Mathad, Nan Zhang, Paula Britto, Lubbe Wiesner, Grace Montepiedra, Jennifer Norman, Ellen Townley, Sarah Bradford, Sandesh Patil, Stephanie Popson, Tsungai Chipato, Vanessa Rouzier, Deborah Langat, Amphan Chalermchockcharoentkit, Amita Gupta, Kelly E. Dooley, Radojka Savic, on behalf of the IMPAACT 2001 Study Team   +18 more
wiley   +1 more source

Inborn Errors of Metabolism

, 2017
Until now, most studies on the pathophysiological mechanisms of inborn errors of metabolism have almost exclusively focused on the measurement of concentrations of different metabolites in plasma, urine, or cerebrospinal fluid.
Frits A. Wijburg, Ronald J.A. Wanders, Wanders, Ronald J.A., Hidde H. Huidekoper, Huidekoper, Hidde; id_orcid, Wijburg, Frits A.   +5 more
core   +1 more source

Membrane lipid metabolism as a regulatory frontier in neural crest biology: Roles for sphingolipids, cholesterol, and lipid rafts

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are multipotent, migratory stem‐like cells essential for vertebrate development that contribute broadly to many tissues including the craniofacial skeleton, peripheral nervous system, and pigment‐producing cells. Their development progresses through phases of induction, specification, delamination, migration, and ...
Allison E. Mancini, Mallorie P. Jenne, Michael L. Piacentino   +2 more
wiley   +1 more source

Evaluation of the CRISPR/Cas9 system as genome editing platform for the Mucopolysaccharidosis IV A using a strategy for induction of higher homologous recombination frequency

Universitas Scientiarum
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding for the hydrolase N-acetylgalactose-6-sulfate sulfatase (GALNS). GALNS deficiency leads to a progressive buildup of partially degraded chondroitin-
Diego Alejandro Suarez, Andrés Felipe Leal, Carlos Javier Alméciga Díaz   +2 more
doaj   +1 more source

The inborn errors of metabolism: general aspects

, 2010
Historical perspective—inborn errors of metabolism were first recognized by Archibald Garrod, whose studies illustrated the dynamic aspects of human biochemistry and how unitary hereditary factors caused variation in the turnover of physiological ...
Richard W.E. Watts, T.M. Cox
core   +1 more source

EPILEPSY IN INBORN ERRORS OF METABOLISM [PDF]

, 2016
Epilepsy is a frequent and sometimes leading symptom in inborn errors of metabolism, especially in neonatal or infantile ones. Early myoclonic encephalopathy and myoclonus as a seizure type are the prototypes of epilepsy in inherited metabolic diseases ...
E. D. Belousova
core   +1 more source