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Likely inborn error of metabolism - targeted testing not possible v1.47 | NAGLU |
Ivone Leong Source NHS GMS was added to NAGLU. Source London North GLH was added to NAGLU. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NAGLU |
Ellen McDonagh gene: NAGLU was added gene: NAGLU was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAGLU were set to 27604308 Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis Type III; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920; MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses); MUCOPOLYSACCHARIDOSIS TYPE 3B; Mucopolysaccharidosis Type IIIB |