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Gaucher disease, Norrbottnian type

MedGen UID:
383927
•Concept ID:
C1856493
•
Disease or Syndrome
Synonym: Gaucher Disease, Norrbottnian Type
 
OMIM®: 231000

Recent clinical studies

Etiology

Gaucher disease--Norrbottnian type (III). Neuropaediatric and neurobiological aspects of clinical patterns and treatment.
Erikson A
Acta Paediatr Scand Suppl 1986;326:1-42. PMID: 3296644
Gaucher disease--Norrbottnian type. I. General clinical description.
Dreborg S, Erikson A, Hagberg B
Eur J Pediatr 1980 Mar;133(2):107-18. doi: 10.1007/BF00441578. PMID: 7363908

Diagnosis

Impact of imiglucerase supply shortage on clinical and laboratory parameters in Norrbottnian patients with Gaucher disease type 3.
Machaczka M, Kämpe Björkvall C, Wieremiejczyk J, Paucar Arce M, Myhr-Eriksson K, Klimkowska M, Hägglund H, Svenningsson P
Arch Immunol Ther Exp (Warsz) 2015 Feb;63(1):65-71. Epub 2014 Sep 10 doi: 10.1007/s00005-014-0308-8. PMID: 25205209Free PMC Article
Gaucher disease--Norrbottnian type (III). Neuropaediatric and neurobiological aspects of clinical patterns and treatment.
Erikson A
Acta Paediatr Scand Suppl 1986;326:1-42. PMID: 3296644
Gaucher disease--Norrbottnian type. Neurodevelopmental, neurological, and neurophysiological aspects.
Blom S, Erikson A
Eur J Pediatr 1983 Sep;140(4):316-22. doi: 10.1007/BF00442672. PMID: 6628452
Gaucher disease--Norrbottnian type. I. General clinical description.
Dreborg S, Erikson A, Hagberg B
Eur J Pediatr 1980 Mar;133(2):107-18. doi: 10.1007/BF00441578. PMID: 7363908

Therapy

Impact of imiglucerase supply shortage on clinical and laboratory parameters in Norrbottnian patients with Gaucher disease type 3.
Machaczka M, Kämpe Björkvall C, Wieremiejczyk J, Paucar Arce M, Myhr-Eriksson K, Klimkowska M, Hägglund H, Svenningsson P
Arch Immunol Ther Exp (Warsz) 2015 Feb;63(1):65-71. Epub 2014 Sep 10 doi: 10.1007/s00005-014-0308-8. PMID: 25205209Free PMC Article

Prognosis

Gaucher disease--Norrbottnian type (III). Neuropaediatric and neurobiological aspects of clinical patterns and treatment.
Erikson A
Acta Paediatr Scand Suppl 1986;326:1-42. PMID: 3296644
Gaucher disease--Norrbottnian type. I. General clinical description.
Dreborg S, Erikson A, Hagberg B
Eur J Pediatr 1980 Mar;133(2):107-18. doi: 10.1007/BF00441578. PMID: 7363908

Clinical prediction guides

Gaucher disease--Norrbottnian type (III). Neuropaediatric and neurobiological aspects of clinical patterns and treatment.
Erikson A
Acta Paediatr Scand Suppl 1986;326:1-42. PMID: 3296644

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