Results 111 to 120 of about 1,764 (178)

SIADH as an Underrecognized Manifestation of Porphyria-like Crises in Hereditary Tyrosinemia Type 1: Clinical and Pathophysiological Insights. [PDF]

Int J Mol Sci
Saraceno E, Serra I, Bracci B, Pagliardini V, Pinon M, Tuli G, Versace A, Bondone C, Spada M.   +8 more
europepmc   +1 more source

Variants in GSTZ1 Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals and Literature Review. [PDF]

Genes (Basel)
Barretta F, Uomo F, Verde A, Fisco M, Gallo G, Albano L, Crisci D, Mazzaccara C, Strisciuglio P, Ruoppolo M, Fecarotta S, Parenti G, Frisso G, Rossi A.   +13 more
europepmc   +1 more source

Untargeted Metabolomics Reveals Metabolic Reprogramming Linked to HCC Risk in Late Diagnosed Tyrosinemia Type 1. [PDF]

Metabolites
Sidorina A, Rizzo C, Leal-Witt MJ, Arias C, Cortés I, Cornejo V, Sacchetti E, Catesini G, Boenzi S, Dionisi-Vici C, Fuenzalida K.   +10 more
europepmc   +1 more source

Mol Genet Metab [PDF]

Tyrosinemia type I (TYR I) is caused by autosomal recessive fumarylacetoacetate hydrolase deficiency and is characterized by development of severe liver disease in infancy and neurologic crises.

core  

Comment on Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66. [PDF]

Int J Neonatal Screen
Bouva MJ, Maase RE, van Elburg RM.
europepmc   +1 more source

A novel acquired resistance mechanism to 5-aminolevulinic acid-mediated photodynamic therapy with ABCG2 inhibition. [PDF]

Photochem Photobiol
Chandratre S, Olsen J, Chen B.
europepmc   +1 more source

Discovery of newborn Wilson disease biomarkers via integrated next-generation sequencing and untargeted metabolomics. [PDF]

Orphanet J Rare Dis
Guan X, Sun Y, Wang Y, Li Y, Zhang Z, Hong D, Yang P, Liang X, Wang X, Yu B.   +9 more
europepmc   +1 more source

Correction: Integration of metabolomics and transcriptomics provides insights into the molecular mechanism of temporomandibular joint osteoarthritis. [PDF]

PLoS One
Tuerxun P, Ng T, Zhao K, Zhu P.
europepmc   +1 more source

Clinical Spectrum of Hereditary Tyrosinemia Type 1 in a Cohort of Pakistani Children. [PDF]

Clin Med Insights Pediatr
Khan SA, Fakih M, Taufiq N, Ahmerin A, Bangash A, Iqbal Malik M.   +5 more
europepmc   +1 more source

In vivo dissection of the mouse tyrosine catabolic pathway with CRISPR-Cas9 identifies modifier genes affecting hereditary tyrosinemia type 1. [PDF]

Genetics
Rivest JF, Carter S, Goupil C, Antérieux P, Cyr D, Ung RV, Dal Soglio D, Mac-Way F, Waters PJ, Paganelli M, Doyon Y.   +10 more
europepmc   +1 more source