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Aspartylglucosaminuria, finnish type

MedGen UID:: 865738
•Concept ID:: C4017301
•: Finding

Synonym:	ASPARTYLGLUCOSAMINURIA, FINNISH TYPE

OMIM®:	613228

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Finnish-type aspartylglucosaminuria detected by oligonucleotide ligation assay.

Delahunty CM, Ankener W, Brainerd S, Nickerson DA, Mononen IT
Clin Chem 1995 Jan;41(1):59-61. PMID: 7813081

Clinical prediction guides

A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase.

Saarela J, von Schantz C, Peltonen L, Jalanko A
Hum Mutat 2004 Oct;24(4):350-1. doi: 10.1002/humu.9276. PMID: 15365992

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Aspartylglucosaminuria, finnish type
Aspartylglucosaminuria, finnish type

MedGen
C0268225[trait identifier] AND "OMIM"[submitter] (11)
ClinVar
C4017301[conceptid] (1)
MedGen
C0796028[trait identifier] AND "OMIM"[submitter] (6)
ClinVar
C1862472[trait identifier] AND "OMIM"[submitter] (7)
ClinVar

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