Results 61 to 70 of about 64,666 (262)

Hepatocytes in the development of liver support systems [PDF]

, 1993
This thesis focuses on the development of alternative strategies in the treatment of patients with acute fulminant hepatic failure and inborn errors of metabolism, using hepatocytes as the basis of liver support.
Borel Rinkes, I.H.M. (Inne)
core   +1 more source

The incidence of portal vein thrombosis at liver transplantation [PDF]

, 1992
The incidence of portal vein thrombosis was examined in 885 patients who received orthotopic liver transplantations for various end‐stage liver diseases between 1989 and 1990. The thrombosis was classified into four grades.
Iwatsuki, S, Nonami, T, Starzl, TE, Yokoyama, I   +3 more
core   +1 more source

An Overview of the Inborn Errors of Metabolism, Its Diagnosis, and Management [PDF]

, 2023
Avijit Saha, Shritama Aich, Kheya Mukherjee, Tapas Kumar Sur, S Ghosh, Sanjay Vashisth   +5 more
openalex   +1 more source

Evaluation of the CRISPR/Cas9 system as genome editing platform for the Mucopolysaccharidosis IV A using a strategy for induction of higher homologous recombination frequency

Universitas Scientiarum
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding for the hydrolase N-acetylgalactose-6-sulfate sulfatase (GALNS). GALNS deficiency leads to a progressive buildup of partially degraded chondroitin-
Diego Alejandro Suarez, Andrés Felipe Leal, Carlos Javier Alméciga Díaz   +2 more
doaj   +1 more source

LABRAD : Vol 41, Issue 3 - December 2015 [PDF]

, 2015
Overview on Approach to Inherited Bleeding Disorders Diagnostic Approach to Haemoglobinopathies Transient Abnormal Myelopoiesis Urinary Tract Infections (UTI) in Children Role of Histopathology in the Diagnosis of Paediatric Renal Tumours Role of ...
Aga Khan University Hospital, Karachi
core   +1 more source

Evaluation of the PP6D5 Polymer as a Novel Non-Viral Vector in the Development of a CRISPR/nCas9-Based Gene Therapy for Tay–Sachs Disease

Pharmaceutics
Background/Objectives: Tay–Sachs disease (TSD) is a neurodegenerative disorder caused by a deficiency in β-hexosaminidase A (HexA), which accumulates GM2 gangliosides, primarily in neurons.
Jacky M. Guerrero-Vargas, Diego A. Suarez-Garcia, Andrés F. Leal, Ivonne L. Diaz-Ariza, León D. Pérez-Pérez, Angela J. Espejo-Mojica, Carlos J. Alméciga-Díaz   +6 more
doaj   +1 more source

Aminosäuren – Leitlinie Parenterale Ernährung, Kapitel 4 [PDF]

, 2009
Protein catabolism should be reduced and protein synthesis promoted with parenteral nutrion (PN). Amino acid (AA) solutions should always be infused with PN. Standard AA solutions are generally used, whereas specially adapted AA solutions may be required
Blumenstein, Irina Ursula, Böhles, Hansjosef, Goeters, Christiane, Schulz, Ralf-Joachim, Stein, Jürgen   +4 more
core  

Genome editing for inborn errors of metabolism: advancing towards the clinic [PDF]

, 2017
Inborn errors of metabolism (IEM) include many disorders for which current treatments aim to ameliorate disease manifestations, but are not curative.
Bao, Gang, Lee, Ciaran M, Schneller, Jessica L, Venditti, Charles P   +3 more
core   +1 more source

Orotic Aciduria [PDF]

, 2018
Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
core   +1 more source

Acute Hepatic Porphyrias: Review and Recent Progress. [PDF]

, 2019
The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms.
Andant, Anderson, Andersson, Badawy, Balwani, Bissell, Bissell, Bloomer, Bonkovsky, Bonkovsky, Bonkovsky, Bonkovsky, Bonkowsky, Bonkowsky, Bonkowsky, Bylesjo, Chen, D’Avola, Ferrer, Glueck, Handschin, Jeans, Lambrecht, Lane, Marsden, McGuire, Pallet, Sardh, Sardh, Shen, Singal, Stein, Stewart, Tchernitchko, Wahlin, Watson, Watson, Willandt, Wu, Yarra, Yasuda   +40 more
core   +1 more source