Results 11 to 20 of about 2,009 (143)

Supportive care in a patient with Alstrom syndrome with hyperphenylalaninemia and sleep problems [PDF]

Clinical Case Reports, 2023
Alstrom syndrome is a rare genetic disorder with an autosomal recessive mutation in the ALMS1 gene. The disease's manifestations include ophthalmic problems, hearing loss, obesity, and cardiovascular disorders.
Shabnam Jalilolghadr, Fatemeh Saffari, Mehdi Alizadeh, AliReza Taremiha, Marjan Ghodsi, Mersedeh Ghodsi   +5 more
doaj   +2 more sources

Brain involvement in Alström syndrome [PDF]

Orphanet Journal of Rare Diseases, 2013
Background Alström Syndrome (AS) is a rare ciliopathy characterized by cone–rod retinal dystrophy, sensorineural hearing loss, obesity, type 2 diabetes mellitus and cardiomyopathy.
Citton Valentina, Favaro Angela, Bettini Vera, Gabrieli Joseph, Milan Gabriella, Greggio Nella Augusta, Marshall Jan D, Naggert Jürgen K, Manara Renzo, Maffei Pietro   +9 more
doaj   +2 more sources

Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features [PDF]

Orphanet Journal of Rare Diseases
Background Alström syndrome (ALMS) is a rare autosomal recessive multisystem disorder caused by biallelic pathogenic variants in the ALMS1 gene, characterized by progressive cone-rod dystrophy, early-onset obesity, cardiomyopathy, and multiorgan ...
Yiguo Huang, Libo Wang, Qianwen Zhang, Shiyang Gao, Guoying Chang, Tingting Yu, Ru-en Yao, Yu Ding, Xiumin Wang   +8 more
doaj   +2 more sources

A novel missense ALMS1 variant causes aberrant splicing identified in a cohort of patients with Alström syndrome. [PDF]

Front Genet, 2022
Shi J, Xu K, Zhang X, Xie Y, Chang H, Li Y.   +5 more
europepmc   +3 more sources

Alström syndrome in China: epidemiologic trends, geographic distribution, and clinical-socioeconomic profiles under innovative care models. [PDF]

BMC Pediatr
Zhang Q, Wang L, Huang Y, Gao S, Chang G, Ding Y, Wang X.   +6 more
europepmc   +3 more sources

Efficacy of Semaglutide in Pediatric Patients With Bardet-Biedl Syndrome and Alström Syndrome. [PDF]

JCEM Case Rep
Dauleh H, Mohammed I, Hussain K.
europepmc   +3 more sources

Diagnosing Alström syndrome in a patient followed up with syndromic obesity for years. [PDF]

Intractable Rare Dis Res, 2022
Yakubi M, Cicek D, Demir M, Yildirim A, Hatipoglu N, Ozkul Y, Dundar M.   +6 more
europepmc   +3 more sources

First live birth after <i>in vitro</i> fertilization in a woman with Alström syndrome: a case report. [PDF]

Front Reprod Health
Carosso AR, Carosso M, Revelli A, Canosa S, Marozio L, Gennarelli G, Maffei P, Ditaranto S, Benedetto C.   +8 more
europepmc   +3 more sources

Spinal fusion with motor evoked potential monitoring using remimazolam in Alström syndrome: A case report. [PDF]

Medicine (Baltimore), 2021
Arashiro A, Shinzato H, Kamizato K, Kakinohana M.   +3 more
europepmc   +2 more sources

Alström Syndrome: A Rare Cause of Severe Insulin Resistance. [PDF]

JCEM Case Rep, 2023
Radi S, Binmahfooz S, Nawar S, Malaikah H.   +3 more
europepmc   +3 more sources