Results 111 to 120 of about 1,331 (171)

Cardiovascular involvement in Alcaptonuria: a case report on ochronotic aortic valve. [PDF]

J Cardiothorac Surg
Yusifli A, Coskun U, Deniz Y, Kale A, Ayık MF, Buket S.   +5 more
europepmc   +1 more source

Pediatric liver transplantation for inherited metabolic disease-Current challenges. [PDF]

Saudi J Gastroenterol
Vara R, Hadzic N.
europepmc   +1 more source

New drugs: Nitisinone

Australian Prescriber, 2009
openaire   +1 more source

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

Combined alkaptonuria and osteoporosis contributing to chronic back pain. [PDF]

Endocrinol Diabetes Metab Case Rep
Riegler A, Anand G.
europepmc   +1 more source

Overcoming the cytosine base editing barrier: Virus-like particles with uracil-DNA glycosylase inhibition unlocking the clinical potential. [PDF]

Clin Transl Med
Wu Y, Zhu X, Zhu J, Chen J, Hong J.
europepmc   +1 more source

Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort study. [PDF]

Orphanet J Rare Dis
Antoni G, Kumps C, Berger J, Barman-Aksözen J, Tran C.   +4 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

Incidental Discovery of Ochronosis During Total Knee Arthroplasty: A Case Report and Literature Review. [PDF]

Arthroplast Today
Demain A, Willemart E.
europepmc   +1 more source

Rapid multiplex liver gene-editing in mice using adeno-associated virus 8 or lipid nanoparticles. [PDF]

Mol Ther Adv
Wu D, Bolt I, Tolenaars DW, Duijst S, In Het Panhuis W, Hofstraat SRJ, Zwolsman R, van der Meel R, Paulusma CC, van de Graaf SFJ.   +9 more
europepmc   +1 more source