Alström Syndrome with Acute Pancreatitis: A Case Report
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
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Alstrom syndrome with liver cirrhosis: First case from Turkey [PDF]
, 2013 Alstrom syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood ...
Hasan ESEN +14 more
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Case Reports in Ophthalmological Medicine, 2022 Bardet–Biedl syndrome is a rare autosomal recessive form of syndromic obesity which is characterized by retinal degeneration, obesity, polydactyly, cognitive impairment, and renal and urogenital anomalies.
Roghayeh Dehghan +3 more
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Caloric restriction in Alstrom syndrome prevents hyperinsulinemia. [PDF]
, 2009 Alstrom syndrome (AS; OMIM 203800) is an autosomal recessive disorder characterized by cone-rod dystrophy, dilated cardiomyopathy, sensorineural hearing impairment, developmental delay, and most case had both childhood-onset obesity and ...
Jan D. Marshall +13 more
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GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance. [PDF]
PLoS ONE, 2014 Dysregulation of signaling pathways in adipose tissue leading to insulin resistance can contribute to the development of obesity-related metabolic disorders.
Francesca Favaretto +7 more
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sj-pdf-1-imr-10.1177_03000605231184100 - Supplemental material for Infant Alstrom syndrome diagnosed by a new gene mutation: a case report [PDF]
, 2023 Supplemental material, sj-pdf-1-imr-10.1177_03000605231184100 for Infant Alstrom syndrome diagnosed by a new gene mutation: a case report by Yujiao Ye, Xianmin Wang, Guixia Li, Xiao Xia Xuehong Ji in Journal of International Medical ...
Xianmin Wang (14519135) +4 more
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Papilledema, Papillitis, or Papillopathy? - Optic Disc Findings in a Child With Alstrom Syndrome [PDF]
, 2022 Alstrom syndrome is an autosomal recessive inherited retinal disease (IRD) due to mutations in the ALMS1 gene.1 The disorder is a ciliopathy that manifests initially as a cone-rod dystrophy.
Melinda Y. Chang, MD, Melinda Y. Chang
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The role of an ophthalmologist in the Alström syndrome diagnosis [PDF]
Vojnosanitetski Pregled, 2019 Introduction. The Alström syndrome (AS) is an extremely rare autosomal recessive genetic disorder, affecting fewer than 1: 1,000,000 people globally. It is a single gene disorder due to the mutation of ALMS1 on chromosome 2 (2p13).
Karadžić Jelena +3 more
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, 2023 Alström disease is a condition of autosomal recessive trait disorders that are characterized. At the same time, cone-rod spinal muscular atrophy, hearing impairment, adolescent upper abdominal overweight, insulin sensitivity but also insulin production, insulin-dependent, hypercholesterolemia, present approximately through sexual maturity, myocardial ...
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Topical carbonic anhydrase inhibitors in macular edema associated with Alstrom syndrome [PDF]
, 2016 Background: Alstrom syndrome is a rare genetic ciliopathy caused by a mutation in the ALMS1 gene. The syndrome is characterized by cone-rod dystrophy, dilated myocardiopathy, childhood obesity and sensorineural hearing loss.
Pastora, Natalia +4 more
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