Results 61 to 70 of about 8,658 (196)
Metabolic Disorders: Inborn Errors of Amino Acid, Ammonia, Organic Acid, and Fatty Acid Metabolism
The small molecule diseases include inborn errors of carbohydrate, ammonia, amino acid, organic acid, and fatty acid metabolism. They are central among the biochemical genetic disorders that may present with life-threatening illnesses during infancy and childhood. Many of these disorders are now detected through routine newborn screening.
Sameer S. Chopra, Gerard T. Berry
openaire +1 more source
Antimicrobial prescribing guidelines for horses in Australia
The growing problem of antimicrobial resistance also affects equine veterinarians with increasing frequency. Antimicrobial stewardship and responsible prescribing are essential for a future in which effective antimicrobials are available, as it is unlikely that new antimicrobials will become available for use in horses.
L Hardefeldt+18 more
wiley +1 more source
Peroxisomes are unique subcellular organelles which play an indispensable role in several key metabolic pathways which include: (1.) etherphospholipid biosynthesis; (2.) fatty acid beta-oxidation; (3.) bile acid synthesis; (4.) docosahexaenoic acid (DHA)
Ronald J.A. Wanders+2 more
doaj +1 more source
Intracellular tryptophan levels modulate selective autophagy of FTH1 via the NCOA4 pathway. This autophagic process then inhibits 6‐HMT synthesis, which then results in an increase in reactive oxygen species and ferroptosis. ABSTRACT Hepatocellular carcinoma (HCC) remains a lethal malignancy with limited therapeutic options.
Xinxiang Cheng+10 more
wiley +1 more source
GC-MS METHODS FOR AMINO ACIDS DETERMINATION IN DIFFERENT BIOLOGICAL EXTRACTS
Sensitive, precise and accurate analytical methods for free amino acids determination in biological samples were developed. Purification by ion exchange technique was followed by two steps derivatization method to obtain trifluoroacetyl ester ...
Monica CULEA+4 more
doaj
Background: Phenylketonuria, commonly known as PKU, is an inherited disorder in which there is an abnormally elevated blood level of the amino acid phenylalanine leading to several pathologies affecting multiple organs including the central nervous ...
Ahmed Al-Imam
doaj +1 more source
ABSTRACT Hematologic emergencies are urgent health conditions which result in significant mortality and morbidity unless timely therapeutic measures are taken. Therapeutic success depends on their timely and accurate recognition by hematology laboratory services.
Ganna Shestakova+2 more
wiley +1 more source
A Practical Guide to Genetic Eye Conditions for Paediatricians
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin+5 more
wiley +1 more source
Organic acidurias and aminoacidopathies are groups of frequent inborn errors of metabolism (IEMs), which are caused by mutations in specific genes that lead to loss of protein/enzyme or transport function with important deleterious effects to cell ...
Moacir Wajner+6 more
doaj +1 more source
Summary Molecular breeding strategies such as genome‐wide association studies (GWAS) and genomic prediction have revolutionized crop improvement by enhancing selection accuracy and genetic gains. Through a comprehensive evaluation of a large set of maize lines from Germplasm Enhancement of Maize (BGEM) and their testcross hybrids, we aimed to ...
Alison Uberti+4 more
wiley +1 more source