scholarly journals Hepatocellular targeted α-tocopherol based pH sensitive galactosylated lipids: design, synthesis and transfection studies

MedChemComm ◽  
2018 ◽  
Vol 9 (2) ◽  
pp. 264-274 ◽  
Author(s):  
Venkanna Muripiti ◽  
Brijesh Lohchania ◽  
Srujan Kumar Marepally ◽  
Srilakshmi V. Patri
Keyword(s):  
Gene Delivery ◽  
Genetic Disorders ◽  
Ph Sensitive ◽  
Type I ◽  
Design Synthesis ◽  
Tyrosinemia Type I ◽  
Hereditary Tyrosinemia

Receptor mediated gene delivery to the liver offers advantages in treating genetic disorders such as hemophilia and hereditary tyrosinemia type I (HTI).

scholarly journals In Vivo Correction of Murine Hereditary Tyrosinemia Type I by ϕC31 Integrase-Mediated Gene Delivery

2005 ◽  
Vol 11 (3) ◽  
pp. 399-408 ◽  
Author(s):  
Patrice K. Held ◽  
Eric C. Olivares ◽  
Christina P. Aguilar ◽  
Milton Finegold ◽  
Michele P. Calos ◽  
...  
Keyword(s):  
Gene Delivery ◽  
Type I ◽  
Tyrosinemia Type I ◽  
Hereditary Tyrosinemia

Chronic-Onset Hereditary Tyrosinemia Type I

2001 ◽  
Vol 20 (3) ◽  
pp. 241-244
Author(s):  
John Pohl ◽  
Catherine Hughes ◽  
Michael Farrell
Keyword(s):  
Type I ◽  
Tyrosinemia Type I ◽  
Hereditary Tyrosinemia

Extensive changes in liver gene expression induced by Hereditary Tyrosinemia type I are not normalized by treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC)

2003 ◽  
Vol 39 (6) ◽  
pp. 901-909 ◽  
Author(s):  
Marjanka C Luijerink ◽  
Saskia M.M Jacobs ◽  
Ellen A.C.M van Beurden ◽  
Leander P Koornneef ◽  
Leo W.J Klomp ◽  
...  
Keyword(s):  
Gene Expression ◽  
Type I ◽  
Tyrosinemia Type I ◽  
Liver Gene ◽  
Hereditary Tyrosinemia

scholarly journals Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.

1993 ◽  
Vol 91 (4) ◽  
pp. 1816-1821 ◽  
Author(s):  
E A Kvittingen ◽  
H Rootwelt ◽  
P Brandtzaeg ◽  
A Bergan ◽  
R Berger
Keyword(s):  
Type I ◽  
Tyrosinemia Type I ◽  
Hereditary Tyrosinemia

scholarly journals Spectrophotometric Microassay for δ-Aminolevulinate Dehydratase in Dried-Blood Spots as Confirmation for Hereditary Tyrosinemia Type I

2001 ◽  
Vol 47 (8) ◽  
pp. 1424-1429 ◽  
Author(s):  
Andreas Schulze ◽  
David Frommhold ◽  
Georg F Hoffmann ◽  
Ertan Mayatepek
Keyword(s):  
Enzyme Activity ◽  
Neonatal Screening ◽  
Dried Blood Spots ◽  
Confirmatory Test ◽  
Type I ◽  
Screening Programs ◽  
Blood Spots ◽  
Tyrosinemia Type I ◽  
Aminolevulinate Dehydratase ◽  
Hereditary Tyrosinemia

Abstract Background: Hereditary tyrosinemia type I (HT) fulfills the criteria for inclusion in neonatal screening programs, but measurement of tyrosine lacks clinical specificity and quantitative assay of succinylacetone is laborious. We developed a semiquantitative assay based on inhibition of δ-aminolevulinate dehydratase (ALA-D) by succinylacetone. Methods: Preincubation of 3-mm discs from dried-blood spots and reaction of the enzyme with δ-aminolevulinic acid as substrate were performed in microtiter plates. After separation of the supernatant and 10 min of color reaction with modified Ehrlich reagent, the formation of porphobilinogen was measured at 550 nm in a plate reader. Results: The detection limit for succinylacetone was 0.3 μmol/L; imprecision (CV) was <5.5% within-run and 10–16% between-run. Storage of blood spots at ambient temperature for several days led to a significant decrease of ALA-D activity. Enzyme activity was lost in filter cards at 45 °C, but remained stable at 2–37 °C. Enzyme activity was decreased in EDTA blood. The absorbance at 550 nm was 0.221 (± 0.073) in healthy neonates and 0.043–0.100 in 11 patients with HT. All neonates with increased tyrosine (above the 99.5th centile) in neonatal screening (97 of 47 000) had normal results by the new assay. Conclusions: The spectrophotometric microassay for ALA-D is a simple and sensitive test for HT. This represents a basis for further examination of its general reliability as a confirmatory test if tyrosine is found to be increased.

CHRONIC-ONSET HEREDITARY TYROSINEMIA TYPE I

2001 ◽  
Vol 20 (3) ◽  
pp. 241-244
Author(s):  
John F. Pohl ◽  
Catherine Hughes ◽  
Michael K. Farrell
Keyword(s):  
Type I ◽  
Tyrosinemia Type I ◽  
Hereditary Tyrosinemia

scholarly journals 794 Hereditary Tyrosinemia Type I: Liver Transplantaion (LT) with Living Donor for Hepatocarcinoma After 7 Years of Ntbc

2010 ◽  
Vol 68 ◽  
pp. 401-401
Author(s):  
E Barkaoui ◽  
S Mannai ◽  
H Mestiri ◽  
K Boujemaa ◽  
S Abbès
Keyword(s):  
Living Donor ◽  
Type I ◽  
Tyrosinemia Type I ◽  
Hereditary Tyrosinemia

Single dose NTBC-treatment of hereditary tyrosinemia type I

2012 ◽  
Vol 35 (5) ◽  
pp. 831-836 ◽  
Author(s):  
A. Schlune ◽  
E. Thimm ◽  
D. Herebian ◽  
U. Spiekerkoetter
Keyword(s):  
Single Dose ◽  
Type I ◽  
Tyrosinemia Type I ◽  
Hereditary Tyrosinemia

Confocal Microscopy of Corneal Crystals in a Patient With Hereditary Tyrosinemia Type I, Treated With NTBC

Cornea ◽  
2013 ◽  
Vol 32 (1) ◽  
pp. 91-94 ◽  
Author(s):  
Pieter-Paul Schauwvlieghe ◽  
Jaak Jaeken ◽  
Philippe Kestelyn ◽  
Ilse Claerhout
Keyword(s):  
Confocal Microscopy ◽  
Type I ◽  
Tyrosinemia Type I ◽  
Hereditary Tyrosinemia ◽  
Corneal Crystals
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