Results 81 to 90 of about 1,374 (165)

Molecular Analysis of the HGD Gene in 9 Families With Alkaptonuric Ochronosis in Iran and Identification of Two Novel Variants. [PDF]

Mol Genet Genomic Med
Azami A, Jahanpanah M, Marani YI, Mokhtari D, Mokaber H, Davarnia B.   +5 more
europepmc   +1 more source

Effect of Nitisinone on Aortic Stenosis Disease Progression in Patients With Alkaptonuria: An Analysis of the Suitability of Nitisinone in Alkaptonuria (SONIA) 2 Study. [PDF]

Cureus
Bruce C, Meenamkuzhy-Hariharan P, Hussain S, Eleuteri A, Ranganath L, Fisher M, Imrich R, Arnoux JB, Olsson B, Rudebeck M.   +9 more
europepmc   +1 more source

Post-inflammatory Hyperpigmentation in Skin of Color: Emerging Therapies and Treatment Algorithms. [PDF]

Cureus
Persson C, Desai R, Manikkuttiyil C, Multani H, Lirio R, Nueva M, Hesari R, Gupta A.   +7 more
europepmc   +1 more source

Early-Onset Degenerative Bone Changes as a Manifestation of Alkaptonuria: A Case Report. [PDF]

Cureus
Braga R, Teixeira F, Matos C.
europepmc   +1 more source

Harliku (nitisinone): first FDA-approved disease-modifying therapy for alkaptonuria. [PDF]

Ann Med Surg (Lond)
Chandani HK, Hujjat SFZ, Chandani DK, Khan MS, Mahmoud A.   +4 more
europepmc   +1 more source

Molecular characterization of Alkaptonuria in Brazilian patients. [PDF]

Mol Genet Metab Rep
Moreno CA, de Oliveira Sobrinho RP, Jorente J, Appenzeller S, Meira NGS, Costa LCC, Acosta AX, Brazilian Rare Genomes Project Consortium, Guaragna MS, Steiner CE.   +9 more
europepmc   +1 more source

Video-Assisted Minimally Invasive Endoscopic Aortic Valve Replacement in a Patient With Alkaptonuria. [PDF]

JACC Case Rep
Origel Romero CA, Krasivskyi I, Salamate S, Bakhtiary F, Eghbalzadeh K.   +4 more
europepmc   +1 more source

Mechanistic Insights into Tyrosinase-Catalyzed Metabolism of Hydroquinone: Implications for the Etiology of Exogenous Ochronosis and Cytotoxicity to Melanocytes. [PDF]

Int J Mol Sci
Ito S, Kolbe L, Rogers T, Mann T, Weets G, Tanaka H, Nishimaki-Mogami T, Passeron T, Ojika M, Wakamatsu K.   +9 more
europepmc   +1 more source

Extra-facial Melasma Presenting With Isolated Forearm Involvement in a Male Patient. [PDF]

Cureus
Allevato DM, Davis T, Hamann D.
europepmc   +1 more source

Ochronosis [PDF]

, 2020
openaire   +1 more source