Results 171 to 180 of about 2,741,348 (370)
Heterozygous germline TET2 loss‐of‐function variants associated with an ALPS‐like phenotype
British Journal of Haematology, Volume 206, Issue 5, Page 1330-1334, May 2025.Summary Germline homozygous loss‐of‐function mutations in TET2 result in significant childhood immunodeficiency that resembles autoimmune lymphoproliferative syndrome and predisposes one to lymphoma. The implications of heterozygous variants are less well understood.
Sean Harrop +13 more
wiley +1 more source
Book Review: Phenylketonuria and Some other Inborn Errors of Amino Acid Metabolism [PDF]
, 1972 D. N. Raine
openalex +1 more source
British Journal of Pharmacology, EarlyView.Abstract Background and Purpose Limb‐girdle muscular dystrophy R2 (LGMD R2) is a rare genetic disorder characterised by progressive weakness and wasting of proximal muscles. LGMD R2 is caused by the loss of function of dysferlin, a transmembrane protein crucial for plasma membrane repair in skeletal muscles.
Celine Bruge +10 more
wiley +1 more source
Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases. [PDF]
Mol Genet Genomic Med, 2020 Weber Hoss GR +3 more
europepmc +1 more source
Book Review: Inborn Errors of Calcium and Bone Metabolism [PDF]
, 1977 B. E. C. Nordin
openalex +1 more source
Ketotic Hypoglycaemia Following Sleeve Gastrectomy
Clinical Endocrinology, EarlyView.ABSTRACT Post‐bariatric surgery hypoglycaemia is typically mediated by hyperinsulinaemia, although the exact mechanisms are incompletely understood. Two cases of non‐insulin mediated, ketotic hypoglycaemia following sleeve gastrectomy are presented. After fasting for 40 and 65 h, respectively, both patients developed symptomatic hypoglycaemia, with ...
Jinwen He +3 more
wiley +1 more source
Clinical Genetics, EarlyView.Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl +15 more
wiley +1 more source
Subacute combined degeneration of the cord, dementia and parkinsonism due to an inborn error of folate metabolism. [PDF]
, 1986 Peter T. Clayton +5 more
openalex +1 more source
Cell Proliferation, EarlyView.PDHA2, a testis‐specific subunit of pyruvate dehydrogenase, is required for the conversion of pyruvate to acetyl‐CoA. Its absence results in decreased acetyl‐CoA and precursors for metabolites and energy during spermatogenesis. This results in decreased histone acetylation, defective chromosome structure and moderately reduced crossovers, ultimately ...
Guoqiang Wang +9 more
wiley +1 more source
, 2013 Alkaptonuria (AKU) is an autosomal recessive inborn error metabolism resulting from deficiency of homogentisic acid oxidase (homogentisate 1, 2-dioxygenase) that is required in the metabolism of phenylalanine and tyrosine during the step when ...
Nelwan, Martin L.
core +1 more source