Results 1 to 10 of about 4,018 (220)

Effectiveness and Safety of Personalized Cholic Acid Treatment in Patients With Bile Acid Synthesis Defects. [PDF]

J Inherit Metab Dis
ABSTRACT Bile acid synthesis defects (BASDs) comprise a group of rare, often severe, metabolic disorders. Bile acid replacement therapy decreases toxic bile acid intermediates production and improves biochemical profiles, potentially delaying or stabilizing disease progression.
Polak Y, Kemper EM, Engelen M, Klouwer FCC, Berendse K, Vaz FM, Koot BGP, Swart ENL, Hollak CEM.   +8 more
europepmc   +2 more sources

Successful Treatment of Severe Hepatopulmonary Syndrome as a Rare Complication of Zellweger Spectrum Disorder. [PDF]

JIMD Rep
ABSTRACT We report the case of an 11‐year‐old girl who developed hepatopulmonary syndrome (HPS) as a rare complication of Zellweger spectrum disorder and was successfully treated with liver transplantation. Our patient presented with neonatal sensorineural hearing loss.
Tharakan RM, Rajwal S, Schwahn BC.
europepmc   +2 more sources

Beyond Green: The Therapeutic Potential of Chlorophyll and Its Derivatives in Diabetes Control. [PDF]

Nutrients
Sartore G, Zagotto G, Ragazzi E.
europepmc   +1 more source

Peroxisome Dysfunction and Steatotic Liver Disease. [PDF]

Int J Mol Sci
Vinoy N, Huang G, Wallace DF, Subramaniam VN.   +3 more
europepmc   +1 more source

Plasma metabolomic profiling of diabetic macular edema. [PDF]

Sci Rep
Wang ZY, Yang FY, Cai SW, Tian W, Xie RR, Sun R, Zhu XR.   +6 more
europepmc   +1 more source

PNPLA3-I148M genetic variant rewires lipid metabolism to drive programmed cell death in human hepatocytes. [PDF]

JCI Insight
Florentino RM, Animasahun O, Haep N, Nenwani M, Omoloja K, Altay LN, Achreja A, Morita K, Motomura T, Diaz-Aragon R, Faccioli LA, Sun Y, Liu Z, Hu Z, Yang B, Wuchu F, Shankaran A, Paserba M, Baratta AM, Arazov S, Kocas-Kilicarslan ZN, Meurs N, Behari J, Tafaleng EN, Franks J, Ostrowska A, Tomiyama T, Yugawa K, Morinaga A, Wang Z, Takeishi K, Gavlock DC, Miedel M, Taylor DL, Fox IJ, Yoshizumi T, Nagrath D, Soto-Gutierrez A.   +37 more
europepmc   +1 more source

New potential biomarkers of ulcerative colitis and disease course - integrated metagenomic and metabolomic analysis among Polish patients. [PDF]

J Gastroenterol
Zakerska-Banaszak O, Ladziak K, Kruszka D, Maciejewski K, Wolko L, Krela-Kazmierczak I, Zawada A, Vibeke Vestergaard M, Dobrowolska A, Skrzypczak-Zielinska M.   +9 more
europepmc   +1 more source

High-throughput metabolomics exploring the pharmacological effects and mechanism of icariin on rheumatoid arthritis rat based on ultrahigh-performance liquid chromatography coupled with quadrupole time-of-flight mass spectrometry. [PDF]

Front Mol Biosci
Zhou P, Liu X, Tian Y, Ren S, Liang H.
europepmc   +1 more source

α-Methylacyl-CoA Racemase Deficiency in a Patient with Ataxia, Spasticity, and Segmental Dystonia. [PDF]

Mov Disord Clin Pract
Rashedi R, Gelderblom M, Prilop L, Bester M, Haack TB, Zittel S.   +5 more
europepmc   +1 more source

Unraveling PEX6: insights into very-long-chain fatty acid levels and peroxisome biogenesis disorders in pediatric populations. [PDF]

Ann Pediatr Endocrinol Metab
Ahangari N, Shirvan BB, Ashrafzadeh F, Karimiani EG, Hashemi N, Imannezhad S, Kalat HL, Ebrahimzadeh F, Akhondian J, Toosi MB.   +9 more
europepmc   +1 more source