Results 31 to 40 of about 1,520,545 (236)

Diagnostic pitfalls in neonatal hypertyrosinemia: a case report

Life Sciences, Medicine and Biomedicine, 2023
Hypertyrosinemia results from abnormality in tyrosine metabolism. Acquired hypertyrosinemia is notably more common than inherited types and typically presents with profile suggestive of secondary aetiology on biochemical testing.
Karniza Khalid, Mohd Fazrul Shafiq Kamarudzaman, Siti Nurwani Ahmad Ridzuan, Nurul Izzati Hamzan, Norzahidah Khalid, Noor Hafizah Hassan   +5 more
doaj   +1 more source

Markers of cognitive function in individuals with metabolic disease: Morquio Syndrome and Tyrosinemia Type III [PDF]

, 2018
We characterized cognitive function in two metabolic diseases. MPS–IVa (mucopolysaccharidosis IVa, Morquio) and tyrosinemia type III individuals were assessed using tasks of attention, language and oculomotor function.
Blundell, James, Chakrapani, Anupam, Frisson, S., Gissen, Paul, Hendriksz, Chris, Kearney, Shauna, MacDonald, Anita, Olson, Andrew, Vijay, Suresh   +8 more
core   +3 more sources

A Novel Genetic Screen Identifies Modifiers of Age-Dependent Amyloid β Toxicity in the Drosophila Brain [PDF]

, 2017
The accumulation of amyloid β peptide (Aβ) in the brain of Alzheimer's disease (AD) patients begins many years before clinical onset. Such process has been proposed to be pathogenic through the toxicity of Aβ soluble oligomers leading to synaptic ...
Belfiori Carrasco, Lautaro Francisco, Bocai, Nadia Irina, Castaño, Eduardo Miguel, Ceriani, Maria Fernanda, Marcora, Maria Silvina, Morelli, Laura   +5 more
core   +1 more source

5-Aminolevulinic acid: A matter of life and caveats

Journal of Photochemistry and Photobiology, 2021
Our mini-review concerns the potential adverse pro-oxidant role of 5-aminolevulinic (ALA), the first protoporphyrin IX (PP-IX)/heme precursor widely used in commercial formulations for endogenous photodynamic therapy (PDT).
Etelvino J.H. Bechara, Luiz D. Ramos, Cassius V. Stevani   +2 more
doaj   +1 more source

Targeting the Apoa1 locus for liver-directed gene therapy

Molecular Therapy: Methods & Clinical Development, 2021
Clinical application of somatic genome editing requires therapeutics that are generalizable to a broad range of patients. Targeted insertion of promoterless transgenes can ensure that edits are permanent and broadly applicable while minimizing risks of ...
Marco De Giorgi, Ang Li, Ayrea Hurley, Mercedes Barzi, Alexandria M. Doerfler, Nikitha A. Cherayil, Harrison E. Smith, Jonathan D. Brown, Charles Y. Lin, Karl-Dimiter Bissig, Gang Bao, William R. Lagor   +11 more
doaj   +1 more source

Liver transplantation for biliary atresia [PDF]

, 1984
Orthotopic liver transplantation was performed 15 months to 20 years ago in 126 recipients, all of whom were under 18 years of age. Eighty-six of these pediatric recipients were treated before 1980 with azathioprine (or eyclophosphamide) and prednisone ...
B.W. Shaw Jr., Byers W. Shaw, J.F. Borel, M. Kasai, R.Y. Calne, S. Iwatsuki, Shunzaburo Iwatsuki, T.E. Starzl, T.E. Starzl, T.E. Starzl, T.E. Starzl, T.E. Starzl, Thomas E. Starzl   +12 more
core   +4 more sources

Prolonged activity of the transposase helper may raise safety concerns during DNA transposon-based gene therapy

Molecular Therapy: Methods & Clinical Development, 2023
DNA transposon-based gene delivery vectors represent a promising new branch of randomly integrating vector development for gene therapy. For the side-by-side evaluation of the piggyBac and Sleeping Beauty systems—the only DNA transposons currently ...
Gergely Imre, Bertalan Takács, Erik Czipa, Andrea Bakné Drubi, Gábor Jaksa, Dóra Latinovics, Andrea Nagy, Réka Karkas, Liza Hudoba, Bálint Márk Vásárhelyi, Gabriella Pankotai-Bodó, András Blastyák, Zoltán Hegedűs, Péter Germán, Balázs Bálint, Khaldoon Sadiq Ahmed Abdullah, Anna Georgina Kopasz, Anita Kovács, László G. Nagy, Farkas Sükösd, Lajos Pintér, Thomas Rülicke, Endre Barta, István Nagy, Lajos Haracska, Lajos Mátés   +25 more
doaj   +1 more source

A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report

Orphanet Journal of Rare Diseases, 2009
A male patient, born to unrelated Belgian parents, presented at 4 months with epistaxis, haematemesis and haematochezia. On physical examination he presented petechiae and haematomas, and a slightly enlarged liver.
Kvittingen Eli-Anne, Holme Elisabeth, Zeevaert Renate, Cassiman David, Jaeken Jaak   +4 more
doaj   +1 more source

β-Cyclodextrin Derivative Grafted on Silica Gel Represents a New Polymeric Sorbent for Extracting Nitisinone from Model Physiological Fluids

Molecules, 2021
Nitisinone (NTBC) is used in the treatment of disorders affecting the tyrosine pathway, including hereditary tyrosinemia type I, alkaptonuria, and neuroblastoma.
Magdalena Danek, Anna Korytkowska-Wałach, Hanna Barchańska   +2 more
doaj   +1 more source

Insuficiencia hepática aguda asociada a enfermedades metabólicas hereditarias en ninos pequenos [PDF]

, 2017
INTRODUCTION: Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with a poor prognosis. Early intervention may be lifesaving.
Dias-Costa, F, Diogo, L, Ferreira, S, Garcia, P, Gonçalves, I, Moinho, R, Pinto, C   +6 more
core   +1 more source