OBJECTIVE—To evaluate the efficacy of the addition of insulin when maximal sulfonylurea
therapy is inadequate in individuals with type 2 diabetes. RESEARCH DESIGN AND …

Background Alström syndrome is a recessively inherited genetic disorder characterized by
congenital retinal dystrophy that leads to blindness, hearing impairment, childhood obesity …

Objective This study sought to examine the effects of a 3‐month programme of dietary
advice to restrict carbohydrate intake compared with reduced‐portion, low‐fat advice in …

Carl Henry Alström was born in Vasteras in Sweden in 1907 and was 52 years old when he
published case studies made over 13 years of first one case and then two second cousins …

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 …

We developed a variant database for diabetes syndrome genes, using the Leiden Open
Variation Database platform, containing observed phenotypes matched to the genetic …

Aim To examine the real‐world efficacy of glucagon‐like peptide‐1 receptor agonists (GLP‐
1 RAs) in monogenic obesity in patients with Alström syndrome (ALMS). Methods We …

Background Alström syndrome (AS) is a rare autosomal recessive ciliopathy with a wide
spectrum of clinical features, including cone–rod retinal dystrophy, neuronal deafness …

Bettini V, Maffei P, Pagano C, Romano S, Milan G, Favaretto F, Marshall JD, Paisey R,
Scolari F, Greggio NA, Tosetto I, Naggert JK, Sicolo N, Vettor R. The progression from …

1.5 Mutational spectrum There have been 106 different disease-causing mutations
described thus far, including nonsense (55%), indels (42%), and rare compound frameshift …