Results 41 to 50 of about 38,011 (312)
Targeted next generation sequencing in patients with inborn errors of metabolism [PDF]
, 2018 BACKGROUND: Next-generation sequencing (NGS) technology has allowed the promotion of genetic diagnosis and are becoming increasingly inexpensive and faster.
Armstrong i Morón, Judith +9 more
core +1 more source
Advanced Science, EarlyView.In PCOS patients with hyperandrogenemia, decreased ferritin heavy chain 1 (FTH1) causes Fe2⁺ overload and ferroptosis in trophoblasts. Androgens induce FTH1 protein degradation via AR‐LAMP2A‐mediated chaperone‐mediated autophagy pathway, leading to placental development disruption and early pregnancy loss. Metformin mitigates androgen‐induced placental
Hanjing Zhou +10 more
wiley +1 more source
Molecular Genetics and Metabolism Reports, 2016 The Congenital Disorders of Glycosylation (CDG) are an expanding group of genetic disorders which encompass a spectrum of glycosylation defects of protein and lipids, including N- & O-linked defects and among the latter are the muscular ...
Wendy E. Heywood +11 more
doaj +1 more source
Case-control study about the acceptance of Pegvaliase in Phenylketonuria
Molecular Genetics and Metabolism Reports, 2020 Introduction: Pegvaliase is a novel enzyme substitution therapy approved by the European Drug Administration (EDA) in May 2019 for the treatment of Phenylketonuria (PKU) in adults and children ≥16 years of age.
Johannes Krämer
doaj +1 more source
Foetal Haemoglobin as a Marker of Bone Marrow Suppression Secondary to Anti-Kell Alloimmunisation
International Journal of Neonatal Screening, 2023 Anti-Kell alloimmunisation is a potentially severe minor blood group type incompatibility, not only as a cause of haemolytic disease of the foetus and newborn, but also due to the destruction of red blood cells (RBC) and mature form in the bone marrow ...
Rodrigo Alfredo Morales Painamil +7 more
doaj +1 more source
Carnitine Inborn Errors of Metabolism [PDF]
Molecules, 2019 Carnitine plays essential roles in intermediary metabolism. In non-vegetarians, most of carnitine sources (~75%) are obtained from diet whereas endogenous synthesis accounts for around 25%. Renal carnitine reabsorption along with dietary intake and endogenous production maintain carnitine homeostasis.
Mohammed Almannai +2 more
openaire +3 more sources
Advanced Science, EarlyView.This study suggests that prenatal aspirin exposure is associated with reduced ovarian reserve in offspring, associated with HDAC1‐linked epigenetic downregulation of Usp9x as a candidate mechanism. These preclinical findings provide new insights into fetal‐origin ovarian disorders and contribute to the evidence base concerning aspirin's gestational ...
Yating Li +11 more
wiley +1 more source
Molecular Genetics and Metabolism Reports, 2020 Introduction: Phenylketonuria (PKU) is an inborn error of metabolism, which is caused by a deficiency in the enzyme phenylalanine hydroxylase (PAH). Life-long Phe-free diet impairs quality of life, especially in adolescents and young adults which take ...
Johannes Krämer
doaj +1 more source
BMC Veterinary Research, 2023 Background Bovine herpes virus (BoHV 1 and BoHV-5) are the causative agents of infectious bovine rhinotracheitis (IBR). IBR is responsible for important economic losses in the cattle industry.
Juan Sebastián Quintero Barbosa +5 more
doaj +1 more source
LABRAD : Vol 41, Issue 3 - December 2015 [PDF]
, 2015 Overview on Approach to Inherited Bleeding Disorders Diagnostic Approach to Haemoglobinopathies Transient Abnormal Myelopoiesis Urinary Tract Infections (UTI) in Children Role of Histopathology in the Diagnosis of Paediatric Renal Tumours Role of ...
Aga Khan University Hospital, Karachi
core +1 more source