Results 131 to 140 of about 4,798 (243)

Newborn blood spot screening for galactosemia, tyrosinemia type I, homocystinuria, sickle cell anemia, sickle cell/beta-thalassemia, sickle cell/hemoglobin C disease, and severe combined immunodeficiency

, 2016
Arianna Waye, Mohamed El Shayeb, Bing Guo, Anderson Chuck, İlke Akpinar, Dagmara Chojecki, Charles Yan, Paula Corabian   +7 more
openalex   +1 more source

Hereditary tyrosinemia type I: A new clinical classification with difference in prognosis on dietary treatment [PDF]

, 1994
F. van Spronsen
openalex   +1 more source

Pediatric liver transplantation with cyclosporine and steroids [PDF]

, 1984
Gartner, JC, Iwatsuki, S, Malatack, JJ, Shaw, BW, Starzl, TE, Urbach, AH, Zitelli, BJ   +6 more
core  

Liver transplantation and portacaval shunt in genetic diseases [PDF]

, 1982
Starzl, TE
core  

A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay [PDF]

Natacha Dreumont, Antonella Maresca, Jean-François Boisclair-Lachance, Anne Bergeron, Robert M Tanguay   +4 more
core   +1 more source

Phenotypic characteristics of a tyrosinemia type I: an Egyptian cohort [PDF]

, 2018
Tawhida Yassin Abdel-Ghaffar, Solaf M. Elsayed, Suzan El-Naghi, S Helmy   +3 more
openalex   +1 more source

Orthotopic Liver Transplantation in Children With Hepatic-Based Metabolic Disease. [PDF]

, 1983
Gartner, JC, Iwatsuki, S, Malatack, JJ, Shaw, BW, Starzl, TE, Zitelli, BJ   +5 more
core  

Case Report: Type II tyrosinemia caused by mutations at the c.843_844 inv p.(Trp282Gly) variant locus. [PDF]

Front Genet
Tong F, Peng M, Meng L, Shen J, Huang L, Huang W, Huang W, Song J.   +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

In Vivo Confocal Microscopy and Anterior Segment Optical Coherence Tomography Features of Corneal Pseudodendritic Lesions in Hereditary Tyrosinemia Type 1. [PDF]

Am J Case Rep
Bruno R, Donatelli S, Mastropasqua L, Nubile M.   +3 more
europepmc   +1 more source