Results 111 to 120 of about 2,517,871 (188)

Autosomal recessive <i>ELOVL1</i>-related disorder presenting with severe neonatal cholestasis: A novel clinical feature? [PDF]

Mol Genet Metab Rep
Tsai AC, Lee HT, Sanchez B, Huang YR, Krysinski S, Zalan A, Falsey E.   +6 more
europepmc   +1 more source

Analysis of Organic Residues on Neolithic Pottery in Different Settlements in Poland. [PDF]

Molecules
Orszański Ł, Rosiak A, Sekulska-Jaworska J, Gocławski J, Kałużna-Czaplińska J.   +4 more
europepmc   +1 more source

Retinal Dystrophy and Leukodystrophy Caused by ACBD5 Deficiency in Five Omani Patients: A Case Series. [PDF]

Oman Med J
Al Shamsi B, Ganesh A, Harikrishna B, Al Zuhaibi S, Markovic I, Mansy A, Al Thihli K, Ahmad F, Mameesh M, Al Murshedi F.   +9 more
europepmc   +1 more source

Plasma Very-Long-Chain Fatty Acids in X-Linked Adrenoleukodystrophy: Diagnostic Insights From a Clinical Laboratory Cohort. [PDF]

J Clin Lab Anal
Blas SM, Pujalte SP, Álvarez AM, Ríos AIÁ, Cabello BM, Moreno CN, Gila ALG, Fuentes ED, Moreno EV, Pecellín CD.   +9 more
europepmc   +1 more source

Phytol enhances catalase-dependent ethanol metabolism in liver independent of PPARα. [PDF]

Free Radic Biol Med
Mazur A, Chen X, Denning KL, Xu W, Lawrence LM, Lu Y.   +5 more
europepmc   +1 more source

In vivo base editing rescues liver pathophysiology and peroxisome dysfunction in a mouse model of Zellweger spectrum disorder. [PDF]

Nat Biomed Eng
Gao XD, Presa M, Duby JE, Ryan J, Piec PA, Hsu A, Banskota S, Jiang AY, Chen L, Newby GA, Di Pietro E, Levy JM, Steele BH, Lecordier S, Qin F, Moser AB, Xie J, Gao G, Braverman NE, Zuberi AR, Hacia JG, Lutz CM, Liu DR.   +22 more
europepmc   +1 more source

Rod-cone dystrophy with myriad systemic manifestations. [PDF]

Oman J Ophthalmol
Patil G, Pandarasamy P, Reddy NVSK, Ganne P.   +3 more
europepmc   +1 more source

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

Early hypotonia and visual regression as presenting features of peroxisome biogenesis disorder: an Egyptian case report. [PDF]

BMC Pediatr
Sadek AA, Aladawy MA, Hassan K, Mansour TMM, Naser M, Elmoursy MM, Hedewy S, Hagag A, Mohamed KR, Abdelkreem E.   +9 more
europepmc   +1 more source

Pex1 loss-of-function in zebrafish is viable and recapitulates hallmarks of Zellweger spectrum disorders. [PDF]

Front Mol Neurosci
Heins-Marroquin U, Hodzic Z, da Silva BSC, Hendriks A, Gavotto F, Warmoes MO, Schlicker L, Omri S, Jäger C, Glaab E, Braverman NE, Cordero-Maldonado ML, Linster CL.   +12 more
europepmc   +1 more source