Future Journal of Pharmaceuticals and Health SciencesAlström 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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A Practical Guide to Genetic Eye Conditions for Paediatricians
Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin +5 more
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Alstrom syndrome: further evidence for linkage to human chromosome 2p13. [PDF]
, 1999 Alstrom syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, sensorineural hearing loss, early-onset obesity, and non-insulin-dependent diabetes mellitus.
Greenberg, J +8 more
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Evaluation of insulin resistant diabetes mellitus in Alstrom syndrome: a long-term prospective follow-up of three siblings [PDF]
, 2002 Alstrom syndrome is a rare cause of diabetes mellitus. We studied two generations of a Turkish family in whom four members were affected by Alstrom syndrome. The natural course of the syndrome in three sisters was followed for 13 yr.
Karsidag, K +10 more
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Alstrom syndrome in two siblings.
Journal of the Formosan Medical Association = Taiwan yi zhi, 2001 Alstrom syndrome is a very rare autosomal recessive inherited disorder. Only 50 cases have been reported since the syndrome was first described in 1959. This syndrome is characterized by obesity, impaired glucose tolerance with insulin resistance, retinal degeneration, neurosensory deafness, acanthosis nigricans, hepatic dysfunction, and some endocrine
Y J, Hung +4 more
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Hypertriglyceridaemia in Alstrom\u27s syndrome: causes and associations in 37 cases. [PDF]
, 2004 OBJECTIVE: To document frequency of severe hypertriglyceridaemia in Alstrom\u27s syndrome (AS) and its relationship to hepatic and renal function, glycaemia and insulin resistance.
Mansell, P +6 more
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Human DCTN1: genomic structure and evaluation as a candidate for Alstrom syndrome. [PDF]
, 1998 The human dynactin 1 gene (DCTN1) is positioned on chromosome 2p13, the candidate region for various diseases including Alstrom syndrome, limb-girdle muscle dystrophy, and Miyoshi myopathy. Here, we report the exon-intron structure of DCTN1 along with
Naggert, J K +3 more
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Novel Alu retrotransposon insertion leading to Alström syndrome [PDF]
, 2011 Alstrom syndrome is a clinically complex disorder characterized by childhood retinal degeneration leading to blindness, sensorineural hearing loss, obesity, type 2 diabetes mellitus, cardiomyopathy, systemic fibrosis, and pulmonary, hepatic, and renal ...
Jan D. Marshall +15 more
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The oral mucosal and salivary microbial community of Behçet's syndrome and recurrent aphthous stomatitis. [PDF]
, 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License, permitting all non-commercial use, distribution, and reproduction in any medium, provided the original work is ...
Bergmeier, LA +9 more
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Alstrom Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity. [PDF]
, 2011 Alstrom Syndrome is a life-threatening disease characterized primarily by numerous metabolic abnormalities, retinal degeneration, cardiomyopathy, kidney and liver disease, and sensorineural hearing loss.
Collin, G +8 more
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