Results 1 to 10 of about 11,732 (218)

Peroxisomes in Aging: Guardians of Cellular Resilience and Function. [PDF]

Cells
Vercaemst A, Zhao M, Chai R, Lismont C, Fransen M.   +4 more
europepmc   +1 more source

Medium-chain Acyl-CoA Dehydrogenase Deficiency Identified by MS/MS Newborn Screening Challenges. [PDF]

J Mother Child
Głąb-Jabłońska E, Taybert J, Wiśniewska A, Sasin-Rokita M, Ołtarzewski M, Chełchowska M.   +5 more
europepmc   +1 more source

Early Metabolic Profile in Neonates with Maternal Intrahepatic Cholestasis of Pregnancy. [PDF]

Children (Basel)
Guner Yilmaz B, Abali S, Moniri A, Kilinckaya U, Altinbas E, Ay B, Karakose B, Sahinoglu Y, Sahinoglu M, Yilmaz B, Serteser M, Korkmaz A, Pata O, Beken S.   +13 more
europepmc   +1 more source

Metabolic-Immune Crosstalk in Pediatric Rheumatology: From Pathogenesis to Precision Therapy. [PDF]

Iran J Child Neurol
Shashaani N, Javadi V, Rahmani K, Alaei MR, Shiari R.   +4 more
europepmc   +1 more source

CRISPR-Cas9-based gene editing as a proof-of-concept approach in an inborn error of immunity caused by a DCLRE1C variant. [PDF]

Immunol Res
Duran T, Karaselek MA, Dagdelen B, Kuccukturk S, Guner SN, Keles S, Reisli I.   +6 more
europepmc   +1 more source

Amino Acid Metabolism in Liver Mitochondria: From Homeostasis to Disease. [PDF]

Metabolites
Erdal R, Birsoy K, Unlu G.
europepmc   +1 more source

Intrahepatic Lymphedema Presenting With Abnormal Bilirubin Metabolism as the Initial Manifestation. [PDF]

ACG Case Rep J
Li J, Li X, Hao J.
europepmc   +1 more source

Clinical and biochemical characterization of a patient with prolidase deficiency, a rare disorder of collagen metabolism. [PDF]

Mol Genet Metab Rep
Coody TK, De Biase I, Porter JM, Pasquali M, Shayota BJ.   +4 more
europepmc   +1 more source

Heterozygosity in NPC may be associated with neurologic and systemic phenotypes. [PDF]

Front Neurol
Brémovà-Ertl T, Tahirovic S, Katušić Hećimović S, Martakis K, Rohrbach M, Gautschi M, Dhamija R, Ganesh J, Peters M, Walterfang M, Schneider SA.   +10 more
europepmc   +1 more source