Results 191 to 200 of about 2,862 (212)

Alstrom syndrome – a diagnosis revisited

The British Journal of Diabetes & Vascular Disease, 2013
Carl Henry Alstrom first described the syndrome in 1959.1 It is a rare autosomal recessive, single gene, multi system disorder characterised by early onset retinal (progressive cone rod) dystrophy with profound visual loss, childhood obesity with insulin resistance, hyperinsulinaemia and diabetes, sensorineural hearing loss, dilated cardiomyopathy as ...
Bharati Vusirikala, Veena Rajkumar, Maitrayee Choudhary, Rajesh Peter, Alan Rees, Hemanth Bolusani   +5 more
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Alström's Syndrome: Neurological Manifestations and Genetics

Journal of Pediatric Neurology, 2022
AbstractAlström syndrome (ALMS) is a rare ciliopathy with pleiotropic and wide spectrum of clinical features. It is autosomal recessively inherited and associated with mutations in ALMS1, a gene involved in cilia functioning. High clinical heterogeneity is the main feature of ALMS.
Spoto, Giulia, Pironti, Erica, Amore, Greta, Prato, Adriana, Scuderi, Anna, Colucci, Pia V., Ceravolo, Ida, Farello, Giovanni, Salpietro, Vincenzo, Iapadre, Giulia, Di Rosa, Gabriella, Dicanio, Daniela   +11 more
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Late diagnosis of Alstrom syndrome in a Yemenite-Jewish child

Ophthalmic Genetics, 2019
We describe the ophthalmologic, clinical, and genetic findings in a patient of Yemenite-Jewish origin diagnosed with Alstrom syndrome due to a novel splice-site mutation 10 years after a clinical misdiagnosis of Leber congenital amaurosis.Ophthalmological evaluations included visual acuity, cycloplegic refraction, slit-lamp, and optical coherent ...
Shirel, Weiss, Lior, Cohen, Tamar, Ben-Yosef, Miriam, Ehrenberg, Nitza, Goldenberg-Cohen   +4 more
openaire   +2 more sources

Alstrom syndrome: insulin resistance in young with congestive heart failure

International Journal of Diabetes in Developing Countries, 2019
Alstrom Hallgren syndrome is a rare ciliopathy first described in 1959. It is characterised by progressive cone-rod dystrophy leading to blindness, sensorineural hearing loss, childhood obesity and congestive heart failure. Its pathogenesis is related to development of insulin resistance, and type 2 diabetes mellitus.
Khushboo Agarwal, Alok Gupta, Dhruv Thakur, Rajat Gupta   +3 more
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Alstrom syndrome with hepatic dysfunction: report of one case.

Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi, 2000
Alstrom syndrome is a rare autosomal recessive disorder associated with early childhood retinopathy, progressive sensorineural hearing loss, truncal obesity, and acanthosis nigricans. We report a 10-year-old boy with Alstrom syndrome presenting with general malaise and abnormal liver function for 1 year.
K W, Chang, J W, Hou, S J, Lin, M S, Kong   +3 more
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Alstrom syndrome - the case for secondary prevention

Diabetes Research and Clinical Practice, 2000
Richard B Paisey, Catherine M Carey, Matthew J Parkinson, Charlotte Parkinson, Michael D Cole   +4 more
openaire   +1 more source

Alstrom syndrome.

The Journal of the Association of Physicians of India, 2002
S K, Rajan, K H N, Ameen, C, Hariharan, V S, Natarajhan   +3 more
openaire   +1 more source

Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome

Ophthalmology, 2015
Arif O, Khan, Inam N, Bifari, Hanno J, Bolz   +2 more
openaire   +2 more sources

Characterising puberty in children and young people with Alstrom Syndrome

Endocrine Abstracts, 2023
Ijeoma Anwunah, Tim Barrett, Melanie Kershaw   +2 more
openaire   +1 more source

Alstrom's syndrome

2004
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