Gaucher disease--Norrbottnian type. I. General clinical description.
about
Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase geneRecurrent pulmonary aspergillosis and mycobacterial infection in an unsplenectomized patient with type 1 Gaucher diseaseMulti-system disorders of glycosphingolipid and ganglioside metabolismImpact of imiglucerase supply shortage on clinical and laboratory parameters in Norrbottnian patients with Gaucher disease type 3Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA.Gaucher disease: heterologous expression of two alleles associated with neuronopathic phenotypes.Complex alleles of the acid beta-glucosidase gene in Gaucher disease.Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblottingGaucher disease types 1, 2, and 3: differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine.Gaucher's Disease in Albanian Children: Casuistics and Treatment.Early diagnosis of Gaucher disease in pediatric patients: proposal for a diagnostic algorithm.Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry.Norrbottnian clinical variant of Gaucher disease in Southern Italy.Clinical and biochemical outcome of marrow transplantation for Gaucher disease of the Norrbottnian type.Genetic Substrate Reduction Therapy: A Promising Approach for Lysosomal Storage Disorders.Abnormal neutrophil chemotaxis in Gaucher disease.Bengt Hagberg (1923-2015), Swedish father of child neurology.Rapidly progressive type III Gaucher disease: deterioration following partial splenectomy.Allogeneic hematopoietic stem cell transplantation for treatment of Gaucher disease.Gaucher disease
P2860
Q24676872-9178CAA5-FDB2-4103-85FD-58D6DA9BADE8Q33411315-28630D63-AC31-439A-80E9-0E270D85FB05Q33902037-0B25477A-9EAE-4795-8012-CB2DDC110212Q34900642-73B34DAD-91CC-42AD-B000-885254DE781DQ35196039-825F33BB-A285-4E45-8B00-646EFD17D835Q35196811-EEE24337-BE58-48B7-963C-160FC4817D8DQ35198224-4C2DA01F-78BE-4434-B4D6-30E311C1BA67Q35198801-15435304-B6F0-426E-881F-8C7D8EDB3125Q35200269-CB75F034-6475-4177-A683-61FC8E9CD8F5Q36244633-C0FCD053-38B9-4BEB-BF9D-AEE99668F4B6Q38240658-A558089B-3265-4B07-9F1B-8101A1653A3DQ38533848-5BF7190C-45EC-40BC-9CE8-55062D35753BQ40412918-101FB3F5-8611-418A-AF72-2C3C2BF458B4Q42031202-72C8FC67-B8AF-408E-A873-00C7A5CB7582Q42069602-9C792699-384B-43BB-AA4A-F13ADB1ACBA8Q43986644-EB1B9803-BD48-4539-B313-3EA6ACA894B5Q47617688-80BE297B-A2F4-4629-98B2-795022753555Q49027947-C862B4EF-16A7-4D24-AEAF-DE3D03030B75Q53111007-219D822F-2E98-4223-8D34-FDB0E8B3E2C5Q56338451-5C04B4C9-2E8E-4B2E-BD7E-BB69170FE00F
P2860
Gaucher disease--Norrbottnian type. I. General clinical description.
description
1980 nî lūn-bûn
@nan
1980 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1980 թվականի մարտին հրատարակված գիտական հոդված
@hy
1980年の論文
@ja
1980年論文
@yue
1980年論文
@zh-hant
1980年論文
@zh-hk
1980年論文
@zh-mo
1980年論文
@zh-tw
1980年论文
@wuu
name
Gaucher disease--Norrbottnian type. I. General clinical description.
@ast
Gaucher disease--Norrbottnian type. I. General clinical description.
@en
Gaucher disease--Norrbottnian type. I. General clinical description.
@nl
type
label
Gaucher disease--Norrbottnian type. I. General clinical description.
@ast
Gaucher disease--Norrbottnian type. I. General clinical description.
@en
Gaucher disease--Norrbottnian type. I. General clinical description.
@nl
prefLabel
Gaucher disease--Norrbottnian type. I. General clinical description.
@ast
Gaucher disease--Norrbottnian type. I. General clinical description.
@en
Gaucher disease--Norrbottnian type. I. General clinical description.
@nl
P2093
P356
P1476
Gaucher disease--Norrbottnian type. I. General clinical description.
@en
P2093
P2888
P304
P356
10.1007/BF00441578
P577
1980-03-01T00:00:00Z
P6179
1027992634