Results 91 to 100 of about 4,798 (243)

Étude démographique et généalogique de deux maladies héréditaires au Saguenay [PDF]

, 1984
La population du Saguenay est depuis longtemps reconnue pour l’ampleur des problèmes génétiques auxquels elle fait face. S’agissant en particulier de maladies récessives comme la tyrosinémie, l’ataxie de Friedreich (forme Charlevoix-Saguenay), le ...
Bergeron, Lise, Bouchard, Gérard, Declos, Manon, Glorieux, Francis, Laberge, Claude, Larochelle, Jean, Mortezai, Saidi, Scriver, Charles R.   +7 more
core   +1 more source

Pediatric liver transplantation from neonatal donors [PDF]

, 1992
Sixteen recipients of neonatal liver grafts were compared with 114 contemporaneous pediatric recipients of grafts from older donors. Graft and patient survival were worse in the neonatal group although the differences were not statistically significant ...
Bismuth H, Brolsch CE, Buchanan GR, Hamil PVV, Kalayoglu M, Maisels MJ, Starzl TE, Starzl TE, Urbach AH, Zitelli BJ   +9 more
core   +1 more source

All-in-one adeno-associated virus delivery and genome editing by Neisseria meningitidis Cas9 in vivo

Genome Biology, 2018
Background Clustered, regularly interspaced, short palindromic repeats (CRISPR) and CRISPR-associated proteins (Cas) have recently opened a new avenue for gene therapy.
Raed Ibraheim, Chun-Qing Song, Aamir Mir, Nadia Amrani, Wen Xue, Erik J. Sontheimer   +5 more
doaj   +1 more source

Clinical Outcome of Hepatocyte Transplantation in Four Pediatric Patients with Inherited Metabolic Diseases

Cell Transplantation, 2012
Hepatocyte transplantation (HT) has become an effective therapy for patients with metabolic inborn errors. We report the clinical outcome of four children with metabolic inborn errors that underwent HT, describing the cell infusion protocol and the ...
Carmen Ribes-Koninckx, Eugenia Pareja Ibars, Maria Ángeles Calzado Agrasot, Ana Bonora-Centelles, Begoña Polo Miquel, Juan José Vila Carbó, Ester Donat Aliaga, Jose Mir Pallardó, Maria José Gómez-Lechón, Jose V. Castell   +9 more
doaj   +1 more source

Orthotopic liver transplantation in children. Two-year experience with 47 patients [PDF]

, 1984
During a 24-month period (May 1981 to May 1983), 47 pediatric patients (ranging in age from 7 months to 18 years) underwent orthotopic liver transplantation using cyclosporine and prednisone.
Gartner, JC, Iwatsuki, S, Malatack, JJ, Shaw, BW, Starzl, TE, Zitelli, BJ   +5 more
core  

Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I. [PDF]

Int J Mol Sci, 2021
Gil-Martínez J, Macias I, Unione L, Bernardo-Seisdedos G, Lopitz-Otsoa F, Fernandez-Ramos D, Lain A, Sanz-Parra A, Mato JM, Millet O.   +9 more
europepmc   +1 more source

Prognostic value of thyroid hormone levels in patients evaluated for liver transplantation [PDF]

, 1985
The thyroid hormones T4, T3, rT3 and TSH were assayed in 134 adult patients evaluated and accepted as potential liver transplant candidates at the Universty of Pittsburgh from March, 1981 to December, 1983.
Carter, Chopra, Chopra, Fleiss, Hepner, Inada, Israel, Jennings, Kaptein, Klachko, McConnon, National Institutes of Health Concensus Development Conference Statement, Normura, Robbins, Schenker, Schussler, Slag, Starzl, Van Thiel, Van Thiel, Walfish   +20 more
core   +1 more source

Comparative long-term evaluation of tacrolimus and cyclosporine in pediatric liver transplantation [PDF]

, 2000
Background. In this report, we compare the long-term outcome of pediatric liver transplantation (LTx) patients maintained with tacrolimus-based and with cyclosporine (CsA)-based immunosuppressive therapy.
Fung, J, Green, M, Gronsky, C, Jain, A, Kashyap, R, Mazariegos, G, Reyes, J, Starzl, TE   +7 more
core   +1 more source

In vivo precision base editing to rescue mouse models of disease

Molecular Therapy: Nucleic Acids
CRISPR base editing enables precise, irreversible base conversions without inducing double-stranded breaks (DSBs) and has gained significant attention in recent years. By converting cytosine to thymine (C→T) or adenine to guanine (A→G), base editors (BEs)
Aaron Schindeler, Julian Chu, Christal Au-Yeung, Hsien-Yin Kao, Samantha L. Ginn, Alexandra K. O’Donohue   +5 more
doaj   +1 more source

Enzyme Defect in a Case of Tyrosinemia Type I, Acute Form [PDF]

, 1984
Nobuaki Furukawa, Akihiko Kinugasa, Tomoko Seo, Takashi Ishii, Tomoo Ota, Y Machida, Fumio Inoue, Shinsaku Imashuku, Tomoichi Kusunoki, Tetsuro Takamatsu   +9 more
openalex   +1 more source