UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

English Journal

Rymen D1, Winter J2, Van Hasselt PM3, Jaeken J4, Kasapkara C5, Gokçay G6, Haijes H3, Goyens P7, Tokatli A8, Thiel C9, Bartsch O10, Hecht J11, Krawitz P12, Prinsen HC13, Mildenberger E2, Matthijs G14, Kornak U15.
Molecular genetics and metabolism.Mol Genet Metab.2015 Nov;116(3):163-70. doi: 10.1016/j.ymgme.2015.07.003. Epub 2015 Jul 29.
The conserved oligomeric Golgi (COG) complex consists of eight subunits and plays a crucial role in Golgi trafficking and positioning of glycosylation enzymes. Mutations in all COG subunits, except subunit 3, have been detected in patients with congenital disorders of glycosylation (CDG) of variable
PMID 26260076

The management and treatment of children with Fabry disease: A United States-based perspective.

Hopkin RJ1, Jefferies JL2, Laney DA3, Lawson VH4, Mauer M5, Taylor MR6, Wilcox WR7; Fabry Pediatric Expert Panel.
Molecular genetics and metabolism.Mol Genet Metab.2015 Oct 23. pii: S1096-7192(15)30065-2. doi: 10.1016/j.ymgme.2015.10.007. [Epub ahead of print]
Fabry disease is an inherited X-linked disorder that presents during childhood in male and female patients. Young patients may initially experience pain, hypohidrosis, and gastrointestinal symptoms. Other manifestations of Fabry disease, such as renal and cardiac disease, manifest later in adolescen
PMID 26546059

Seo A1, Walsh T, Lee M, Ho P, Hsu EK, Sidbury R, King MC, Shimamura A.
Pancreas.Pancreas.2015 Oct 22. [Epub ahead of print]
OBJECTIVES: Few genetic causes of exocrine pancreatic dysfunction have been described to date. We identified a family with multiple affected members manifesting exocrine pancreatic dysfunction. Additional associated features included facial rash, sparse hair, hypohidrosis, and swelling of the extrem
PMID 26495788