Results 101 to 110 of about 2,034 (157)

Abstract

JPGN Reports, Volume 6, Issue S2, Page S1-S814, September 2025.
wiley   +1 more source

Alström Syndrome: Cardiac Magnetic Resonance findings. [PDF]

, 2013
BACKGROUND: Alström Syndrome (ALMS) is an extremely rare multiorgan disease caused by mutations in ALMS1. Dilated cardiomyopathy (DCM) is a common finding but only one series has been investigated by Cardiac Magnetic Resonance (CMR).
Tona, Francesco, Maffei, Pietro, Razzolini, Renato, Bettini, Vera, Naggert, Juergen K, Corbetti, Francesco, Marshall, Jan D., Milan, Gabriella   +7 more
core  

Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis. [PDF]

J Med Genet, 2023
Bea-Mascato B, Valverde D.
europepmc   +1 more source

Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome. [PDF]

, 2013
Alström syndrome (ALMS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene. We report two brothers, 3 and 4 years of age and diagnosed with ALMS, who initially presented in infancy with severe dilated cardiomyopathy during ...
Shalev, Stavit A, Spiegel, Ronen, Collin, Gayle B, Lorber, Avraham, Mahamid, Jamal, Horovitz, Yoseph, Naggert, Juergen K, Marshall, Jan D   +7 more
core  

Type 1 Diabetes Mellitus in a Child With Genetically Confirmed Alström Syndrome: An Unusual Autoimmune Phenotype. [PDF]

Cureus
Alquraishi AS, Al Alammar N, Saad MM, Alqahtani RA.   +3 more
europepmc   +1 more source

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   +1 more source

Knowledge mapping of alström syndrome research: a bibliometric and visualization analysis based on WoS data from 2000 to 2025. [PDF]

Front Genet
Zhang H, Fu H, Sui X, Si S, Zhang Y, Li K, Wang M, Song Z, Yang Y, Liu Z, Zhang G.   +10 more
europepmc   +1 more source

Adult-Onset Diabetes and Liver Fibrosis as Diagnostic Clues to Alström Syndrome: A Case Report. [PDF]

Cureus
Balogun F, Honarius S, Yeoh MLY, Abouibrahim M, Sayed M, Randall J.   +5 more
europepmc   +1 more source

Case Report:Pregnancy and birth in a mild phenotype of Alström syndrome. [PDF]

Front Genet, 2022
Marozio L, Dassie F, Bertschy G, Canuto EM, Milan G, Cosma S, Maffei P, Benedetto C.   +7 more
europepmc   +1 more source

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

JCEM Case Rep
Dauleh H, Mohammed I, Hussain K.
europepmc   +1 more source