... associated with germline pathogenic variants in GALNS. Differential Diagnosis Mucopolysaccharidosis type IVB (MPS IVB; see GLB1 -Related Disorders ) ... HM, Giugliani R. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis. 2011;34: ...

... J Pediatr. 2015;41:A17. Clarke LA. The mucopolysaccharidoses: prenatal diagnosis, neonatal screening and emerging therapies. In: A Milunsky ... in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I. Arch Dis Child. 2021;106:674- ...

... HM, Giugliani R. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis. 2011; 34 : ...

... variant in the family is known. Diagnosis The diagnosis of mucopolysaccharidosis type II (MPS II; also known as Hunter ... Probst et al 2007 ]. Differential Diagnosis The differential diagnosis for mucopolysaccharidosis type II (MPS II, or Hunter syndrome) essentially ...

... Genes and Disorders of Interest in the Differential Diagnosis of Mucopolysaccharidosis Type VII View in own window Gene Disorder ... led to the diagnosis) are recommended. Table 4. Mucopolysaccharidosis Type VII: Recommended Evaluations ... in own window System/Concern Evaluation Comment ...

... Table 4. Genes of Interest in the Differential Diagnosis of Mucopolysaccharidosis Type III View in own window Gene DiffDx ... are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with Mucopolysaccharidosis Type III View in own window System/Concern ...

... than their unaffected relatives [ Suzuki et al 2014 ]. Mucopolysaccharidosis Type IVB Onset of first signs and symptoms occurs as early as birth. Eye findings. Corneal ...

... Disease . Accessed 8-23-22 (Registration required). MPS = mucopolysaccharidosis Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...

... Scarpa M, Almassy Z, Beck M, et al. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet ...

... this disorder. A skeletal dysplasia or lysosomal disorders / mucopolysaccharidoses multigene panel that includes MBTPS1 and other genes of interest (see Differential Diagnosis ) is most likely to identify the genetic cause ...