Results 81 to 90 of about 37,810 (312)
Over the edge: Empirical evidence for the cliff‐edge model of obstetric selection
The Anatomical Record, EarlyView.Abstract The cliff‐edge model of obstetric selection maintains that larger neonates and smaller birth canals confer a positive selective advantage until labor becomes obstructed and vaginal delivery is no longer possible, eliciting an abrupt reduction in fitness.
Laura M. Watson +6 more
wiley +1 more source
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders [PDF]
, 2016 INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases ...
Cortès-Saladelafont, Elisenda +17 more
core +1 more source
Effects of Renal and Hepatic Impairment on the Pharmacokinetics of Zilurgisertib
British Journal of Clinical Pharmacology, EarlyView.Aim Small‐molecule activin receptor‐like kinase‐2 inhibitor zilurgisertib (INCB000928) is under investigation in a pivotal trial for the treatment of fibrodysplasia ossificans progressiva (FOP), an ultrarare genetic condition. This analysis assessed effects of renal and hepatic impairment on zilurgisertib pharmacokinetics.
Yan‐ou Yang +5 more
wiley +1 more source
Teratogenic inborn errors of metabolism [PDF]
Postgraduate Medical Journal, 1986 SummaryMost children with inborn errors of metabolism are born healthy without malformations as the fetus is protected by the metabolic activity of the placenta. However, certain inborn errors of the fetus have teratogenic effects although the mechanisms responsible for the malformations are not generally understood.
openaire +2 more sources
New Developments in Screening for Inborn Errors of Metabolism [PDF]
, 1971 I have briefly outlined the PKU program in the State of Virginia and tried to demonstrate how this screening experience has disclosed the heterogeneity of the disease plus the need for an individualized approach to dietary control.
Mamunes, Peter
core +1 more source
LIVER TRANSPLANTATION FOR TYPE I GLYCOGEN STORAGE DISEASE [PDF]
, 1983 A 16½-year-old girl with type I glycogen storage disease was treated by orthotopic liver transplantation under cyclosporin/steroid immunosuppression. All metabolic stigmata of the disease were relieved and 1 year postoperatively she follows a normal diet
Alper +15 more
core +1 more source
British Journal of Clinical Pharmacology, EarlyView.Abstract Aims Paroxetine is a selective serotonin reuptake inhibitor (SSRI), approved for treatment of major depressive disorder and anxiety disorders. Some SSRIs are known to prolong the QT interval; however, clinical evidence to establish a lack of association between paroxetine and corrected QT interval (QTc) prolongation is limited. Therefore, this
Sven C. van Dijkman +6 more
wiley +1 more source
Journal of Lipid ResearchThe gold-standard diagnostic test for peroxisomal disorders (PDs) is plasma concentration analysis of very long-chain fatty acids (VLCFAs). However, this method’s time-consuming nature and limitations in cases which present normal VLCFA levels ...
Blai Morales-Romero +9 more
doaj +1 more source
, 2016 Inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of the body. Although these disorders are individually rare, collectively they account for a significant portion of childhood disability and deaths.
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Inborn errors of metabolism: iron [PDF]
British Medical Bulletin, 1999 The iron content of the body is normally closely regulated. Despite this, iron deficiency anaemia is common in women because iron losses due to menstruation and childbirth are not always compensated for by iron absorption from the diet. The role of transferrin in delivering iron to cells and of ferritin in storing iron within cells is well understood ...
openaire +2 more sources