Results 111 to 120 of about 6,373 (223)

Variants in GSTZ1 Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals and Literature Review. [PDF]

Genes (Basel)
Barretta F, Uomo F, Verde A, Fisco M, Gallo G, Albano L, Crisci D, Mazzaccara C, Strisciuglio P, Ruoppolo M, Fecarotta S, Parenti G, Frisso G, Rossi A.   +13 more
europepmc   +1 more source

Use of matrix-assisted laser desorption/ionization mass spectrometry imaging (MALDI-MSI) to visualize and support interpretation of toxic effects of 4-hydroxyphenylpyruvate dioxygenase inhibitors in rat tissues. [PDF]

Arch Toxicol
Schneider R, Giampà M, Schröder MC, Kubicki M, Boyken J, Beuret L, Semino-Beninel G, Niehaus K, Schorsch F, Lamshoeft M, Bednarz H.   +10 more
europepmc   +1 more source

Current status of liver transplantation (Editorial) [PDF]

, 1977
Koep, LJ, Putnam, CW, Starzl, TE
core  

Correction: Kuypers et al. Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide. <i>Int. J. Neonatal Screen.</i> 2024, <i>10</i>, 82. [PDF]

Int J Neonatal Screen
Kuypers AM, Bouva MJ, Loeber JG, Boelen A, Dekkers E, Petritis K, Pickens CA, The Isns Representatives, van Spronsen FJ, Heiner-Fokkema MR.   +9 more
europepmc   +1 more source

How useful are the biochemical tests in guiding the diagnostic workup of infantile cholestasis? [PDF]

Saudi J Gastroenterol
Al-Hussaini AA, Bashir MS.
europepmc   +1 more source

Prolonged resuscitation and systemic management of multi-organ dysfunction in a neonate with severe asphyxia: a case report. [PDF]

Front Pediatr
Wang Q, Yin J, Wang J, Zhao Z, Du T, Ou H, Cao H, Zhang H, Cao H, Yue W, Jiang S, Luo T, Wang X.   +12 more
europepmc   +1 more source

An Extremely Low-Birth-Weight Infant With Bone Fragility Due to Fanconi Syndrome. [PDF]

Kidney Med
Yoshida R, Hosokawa M, Ukawa T, Tsurisawa C, Hisaeda Y, Amagata S, Takeda T, Nakao A.   +7 more
europepmc   +1 more source

Pediatric liver transplantation. Part II. Diagnostic imaging in postoperative management [PDF]

, 1985
Bron, KM, Cienfuegos, X, Dominguez, K, Gartner, JC, Ledesma-Medina, L, Starzl, TE, Young, LW   +6 more
core   +1 more source

49th Annual Meeting of the Indian Society of Human Genetics and International Conclave on Neurogenetics (ISHG-2025): India's march towards low-cost rare disease therapeutics. [PDF]

Lancet Reg Health Southeast Asia
Jothi M, Thelma BK, Debnath M.
europepmc   +1 more source

Alkaptonuria and Cervical Disc Herniation: Case Report. [PDF]

Int J Spine Surg
Sampaio Júnior FAU, Alves OL, Ribeiro FRB, Quidute BSQ, Ferreira RJR, Lira Filho HT, Ramiro KRB, Santos MMD, Rodrigues MS, Santos LSRD, Silva AIK, Sampaio LMQ.   +11 more
europepmc   +1 more source