Alström Syndrome with Acute Pancreatitis: A Case Report [PDF]
Kaohsiung Journal of Medical Sciences, 2003 We report the case of a 21-year-old female with Alström syndrome who also suffered from acute pancreatitis of obscure manifestation. The patient had underlying cone-rod dystrophy of the retinas, nystagmus, obesity, progressive sensorineural hearing ...
Wen-Chih Wu +9 more
doaj +2 more sources
A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. [PDF]
PLoS Genetics, 2007 Premature truncation alleles in the ALMS1 gene are a frequent cause of human Alström syndrome. Alström syndrome is a rare disorder characterized by early obesity and sensory impairment, symptoms shared with other genetic diseases affecting proteins of ...
Guochun Li +8 more
doaj +3 more sources
The efficacy and safety of setmelanotide in individuals with Bardet-Biedl syndrome or Alström syndrome: Phase 3 trial design [PDF]
Contemporary Clinical Trials Communications, 2021 Background: A phase 2 trial has suggested that treatment with the melanocortin-4 receptor (MC4R) agonist setmelanotide is associated with a decrease in hunger and weight-related outcomes in participants with Bardet-Biedl syndrome (BBS) and Alström ...
Robert M. Haws +5 more
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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 +9 more
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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 +5 more
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Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome [PDF]
BMC Medical Genetics, 2017 Background Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus; cardiomyopathy; systemic ...
Lin Yang +9 more
doaj +2 more sources
Consensus clinical management guidelines for Alström syndrome [PDF]
Orphanet Journal of Rare Diseases, 2020 Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13.
Natascia Tahani +22 more
doaj +6 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 DiseasesBackground 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 +8 more
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Cardiac magnetic resonance imaging in Alström syndrome [PDF]
Orphanet Journal of Rare Diseases, 2009 Background A case series of the cardiac magnetic resonance imaging findings in seven adult Alström patients. Methods Seven patients from the National Specialist Commissioning Group Centre for Alström Disease, Torbay, England, UK, completed the cardiac ...
Carey Catherine M +3 more
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The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway. [PDF]
PLoS ONE, 2012 Alström syndrome (ALMS) is a progressive multi-systemic disorder characterized by cone-rod dystrophy, sensorineural hearing loss, childhood obesity, insulin resistance and cardiac, renal, and hepatic dysfunction. The gene responsible for Alström syndrome,
Gayle B Collin +6 more
doaj +4 more sources