Beta-mannosidosis

Beta-mannosidosis

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 34529
ICD10 =
ICD9 =
ICDO =
OMIM = 248510
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = D044905

Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency, [OMIM|248510] is a rare autosomal recessivecite journal |pmid=2079835 |year=1990 |month= |author=Kleijer, Wj; Hu, P; Thoomes, R; Boer, M; Huijmans, Jg; Blom, W; Van, Diggelen, Op; Seemanova, E; Macek, M |title=Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother |volume=13 |issue=6 |pages=867–72 |issn=0141-8955 |journal=Journal of inherited metabolic disease |doi=10.1007/BF01800211] form of mannosidosis associated with MANBA.cite journal |pmid=12890191 |year=2003 |month=Jul |author=Uchino, Y; Fukushige, T; Yotsumoto, S; Hashiguchi, T; Taguchi, H; Suzuki, N; Konohana, I; Kanzaki, T |title=Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation |volume=149 |issue=1 |pages=23–9 |issn=0007-0963 |journal=The British journal of dermatology |doi=10.1046/j.1365-2133.2003.05365.x]

References

External Links

*RareDiseases|869|Mannosidosis, beta A, lysosomal


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