Results 71 to 80 of about 174,613,300 (296)

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

Leukotriene C4-Synthesis Deficiency

Pediatric Neurology Briefs, 1998
A leukotriene C4-synthesis deficiency, a new inborn error of eicosanoid metabolism characterized by hypotonia, microcephaly, failure to thrive, and retarded development, is described in an infant who died aged 6 months after a rapidly progressive course ...
J Gordon Millichap
doaj   +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

Sjögren-Larsson syndrome: A study of clinical symptoms in six children

Indian Dermatology Online Journal, 2014
Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by triad of congenital ichthyosis, spastic paresis, and mental retardation.
Sahana M Srinivas, KN Vykunta Raju, Ravi Hiremagalore   +2 more
doaj   +1 more source

beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine.

, 2001
In this work, NMR investigations that led to the discovery of a new inborn error of metabolism, beta-ureidopropionase (UP) deficiency, are reported. 1D (1)H-NMR experiments were performed using a patient's urine.
Albert van Gennip, Spraul, M., Voit, T., Dvortsak, P., Vreken, P., Thomas Voit, Gudrun Göhlich‐Ratmann, Eberhard Humpfer, Peter Vreken, Manfred Spraul, Wevers, R.A., Peter Dvortsak, Engelke, U.F.H., Moolenaar, S.H., Christa Bräutigam, Ron A. Wevers, Hoffmann, G.F., Sytske H. Moolenaar, Georg F. Hoffmann, Gennip, A.H. van, Humpfer, E., Kuilenburg, A.B.P. van, André B. van Kuilenburg, Udo F.H. Engelke, Gohlich-Ratmann, G., Brautigam, C.   +25 more
core   +1 more source

DDIEM - Drug Database for inborn errors of metabolism

, 2020
DDIEM - Drug Database for inborn errors of metabolism is a database on therapeutic strategies for inborn errors of metabolism. These strategies are classified by mechanism and outcome in DDIEM ontology.
Marwa Abdelhakim (8295288), Allan Kamau (8337657), Robert Hoehndorf (38206), Dr Paul Schofield, Ali Raza Syed (8337654), Allan Kamau, Marwa Abdelhakim, Robert Hoehndorf, Senay Kafkas (6178748), Eunice McMurray (8337651), Dr Paul Schofield (8337660), Ali Raza Syed, Eunice McMurray, Senay Kafkas   +13 more
core   +2 more sources

Metabolic abnormalities and reprogramming in cats with naturally occurring hypertrophic cardiomyopathy

ESC Heart Failure, Volume 12, Issue 2, Page 1256-1270, April 2025.
Abstract Background and aims The heart is a metabolic organ rich in mitochondria. The failing heart reprograms to utilize different energy substrates, which increase its oxygen consumption. These adaptive changes contribute to increased oxidative stress.
Qinghong Li, Max Homilius, Erin Achilles, Laura K. Massey, Victoria Convey, Åsa Ohlsson, Ingrid Ljungvall, Jens Häggström, Brittany Vester Boler, Pascal Steiner, Sharlene Day, Calum A. MacRae, Mark A. Oyama   +12 more
wiley   +1 more source

Inborn error of metabolism

, 2011
Inborn errors of metabolism are disorders of great importance to physicians treating newborns because rapid diagnosis and appropriate treatment of these conditions are directly related to the patient’s outcome in terms of mortality and morbidity ...
BRUNETTI PIERRI, NICOLA, PARENTI, GIANCARLO, ANDRIA, GENEROSO   +2 more
core  

Nutritional Management of Patients with Inborn Errors of Metabolism

Inborn errors of metabolism (IEM) are a large group of single-gene disorders resulting from enzyme defects in biochemical and metabolic pathways [...
Isidro Vitoria, María-Luz Couce
core   +1 more source

Autistic Feature as a Presentation of Inborn Errors of Metabolism [PDF]

Autism spectrum disorder (ASD) is a category of neurodevelopmental disorders characterized by social and communication impairment and restricted or repetitive behaviors.
احدی, عادل, Nemati, H., احمدآبادی, فرزاد, Ahadi, A., Abdolmohammadzadeh, Amirmohammad, عبدالمحمدزاده, امیرمحمد, Ahmadabadi, F., Abdolmohammadzadeh, A., نعمتی, حمید, Ahadi, Adel, Nemati, Hamid, Ahmadabadi, Farzad   +11 more
core   +1 more source