Results 131 to 140 of about 3,137 (203)

Nitisinone desensitization protocol, case report of hereditary Tyrosinemia type 1 with successful treatment and outcomes. [PDF]

Orphanet J Rare Dis
Vallejo M, Villarreal V, Guardiola MA, Bachiller W, Moreno M, Vargas P, López LJ.   +6 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

SERpredict: Detection of tissue- or tumor-specific isoforms generated through exonization of transposable elements [PDF]

, 2007
Britta Mersch, Noa Sela, Gil Ast, Sandor Suhai, Agnes Hotz-Wagenblatt   +4 more
core   +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

Genomic analysis of an extremophile PLS47 from a deep-sea vent. [PDF]

Front Microbiol
Furqan BRN, Widhiastuty MP, Febriani, Afifah DN, Iqbalsyah TM, Akhmaloka.   +5 more
europepmc   +1 more source

Bg1II RFLP for the human fumarylacetoacetate hydrolase (FAH) gene.

Nucleic acids research, 1991
S I, Demers, R M, Tanguay
openaire   +1 more source

Catalytic activity of FAHD1 correlates with nuclear morphology and proteomic states in human osteosarcoma cells. [PDF]

Sci Rep
Pfarl AS, Heberle A, Weiss AKH.
europepmc   +1 more source

Floodplain nitrifiers harbor the genetic potential for utilizing a wide range of organic nitrogen compounds. [PDF]

mSystems
Rasmussen AN, Langenfeld K, Tolar BB, Perzan Z, Maher K, Cardarelli EL, Bargar JR, Boye K, Francis CA.   +8 more
europepmc   +1 more source

Advances in the therapeutic applications of dichloroacetate as a metabolic regulator: A review. [PDF]

Medicine (Baltimore)
Wu X, Shang M, Li M, Liu Y, Hu H, Zhang P, He Q, Lin S.   +7 more
europepmc   +1 more source

transcriptome sequencing and analysis of L. in non-diapause, diapause and diapause-terminated states to identify diapause-associated genes [PDF]

core   +1 more source