Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children.
Objectives: To summarize available clinical evidence for cysteamine bitartrate preparations in the treatment of nephropathic cystinosis as identified through a systematic literature review (SLR).
This article summarizes the milestones in the development of burosumab leading to its first global approval in the EU for XLH in paediatric patients.
ACTION (Awareness, Care, and Treatment in Obesity maNagement) examined obesity-related perceptions, attitudes, and behaviors among people with obesity (PwO), health care providers (HCPs), and employer representatives (ERs).
In this review, we aim to provide an overview of the latest advances in the pathogenetic, clinical, and therapeutic aspects of cystinosis.
Background: Laparoscopic Roux-en-Y gastric bypass (LRYGB) is an effective treatment for morbid obesity, but might aggravate gastrointestinal complaints and food intolerance.
Background: Tyrosinemia type 1 (TYR1) is a rare autosomal recessive disorder of amino acid metabolism that is fatal without treatment.
Cystinosis is a rare autosomal-recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation.
To investigate the role of DRO1 in obesity and adipogenesis in vivo, we generated a constitutive Dro1 knockout mouse model and analyzed the effect of DRO1 loss on body growth under standard and high fat diet feeding conditions.
We sought to determine the efficacy of high-dose liraglutide (3.0 mg once daily) in patients with prior bariatric surgery.