The Journal of the American Academy of Orthopaedic Surgeons | 2014 | Lareau CR, Sawyer GA, Wang JH, DiGiovanni CW
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[Indexed for MEDLINE] 11. Mucolipidosis III Gamma. Raas-Rothschild A(1)(2), Spiegel R(3)(4). In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2010 Jan 28 [updated 2026 Apr 23]. Author information: (1)Pediatrician Medical Geneticist, Institute of Rare Diseases, Genetic Institute, Sheba Medical Center, Tel HaShomer, Ramat Gan, Israel (2)Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel (3)Pediatrician Medical Geneticist, Pediatric Department B and Center for Rare Diseases, Emek Medical Center, Afula, Israel (4)Rappaport Faculty of Medicine, Technion – Israel Institute of Technology, Haifa, Israel CLINICAL CHARACTERISTICS: Mucolipidosis III gamma (ML IIIγ) is a slowly progressive inborn error of metabolism mainly affecting skeletal, joint, and connective tissues. Clinical onset is in early childhood; the progressive course results in severe functional impairment and significant morbidity from chronic pain. Cardiorespiratory complications (restrictive lung disease from thoracic involvement and thickening and insufficiency of the mitral and aortic valves) are rarely clinically significant. Motor milestones can be affected due to joint disease. A few (probably
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