Results 131 to 140 of about 2,857 (146)

Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy. [PDF]

Yonago Acta Med
Hanaki K, Kinoshita T, Fujimoto M, Sonoyama-Kawashima Y, Kanzaki S, Namba N.   +5 more
europepmc   +1 more source

Disposal of atrial natriuretic factor (ANF99-126) in patients with cirrhosis [PDF]

, 1993
Bendtsen, Flemming, Gerbes, Alexander L., Henriksen, Jens H.   +2 more
core  

Advanced Chronic Kidney Disease (CKD) in a Patient With Alstrom Syndrome. [PDF]

Cureus
Ahmed M, Ahmed AR, Farman RA.
europepmc   +1 more source

Effectiveness of the Dual GIP/GLP1-Agonist Tirzepatide in 2 Cases of Alström Syndrome, a Rare Obesity Syndrome.

J Clin Endocrinol Metab
Ferch M, Peitsch I, Kautzky-Willer A, Greber-Platzer S, Stättermayer AF, Krebs M, Scherer T.   +6 more
europepmc   +1 more source

Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case report. [PDF]

BMC Pediatr
Hu M, Chen S, Wu J, Wang R.
europepmc   +1 more source

Mesenchymal-specific Alms1 knockout in mice recapitulates metabolic features of Alström syndrome. [PDF]

Mol Metab
McKay EJ, Luijten I, Weng X, Martinez de Morentin PB, De Frutos González E, Gao Z, Kolonin MG, Heisler LK, Semple RK.   +8 more
europepmc   +1 more source

Current insights into renal ciliopathies: what can genetics teach us? [PDF]

core   +1 more source

A Case of Siblings with End-Stage Kidney Disease and Retinal Degeneration Suggestive of Partial Alström Syndrome.

Nephron
Shinkawa K, Ishii A, Kimura T, Toriu N, Nakagawa N, Wada T, Sakai K, Endo S, Yokoi H, Matsubara T, Kosaki K, Kosugi S, Yanagita M.   +12 more
europepmc   +1 more source

Alström Syndrome: A Challenging Case Study of a Female Saudi Patient With Type 2 Diabetes Mellitus and Complete Vision Loss. [PDF]

Cureus
Alamri AS, Mahmoud HA, Abu Alnasr AA, Alahmadi AK, Qari YH.   +4 more
europepmc   +1 more source

Alstrom syndrome with classical findings: a rare case report of monogenic ciliopathy co-occurrence in twins. [PDF]

Ann Med Surg (Lond)
Ghimire S, Simkhada S, Thapa S, Ghising K.   +3 more
europepmc   +1 more source