Back to Search
Start Over
Niemann-Pick Disease Type C Initially Misdiagnosed as Gaucher Disease in a 6 Year Old Kazakh Girl.
- Source :
-
The Israel Medical Association journal : IMAJ [Isr Med Assoc J] 2017 Apr; Vol. 19 (4), pp. 262-264. - Publication Year :
- 2017
- Subjects :
- Bone Marrow pathology
Child, Preschool
Diagnosis, Differential
Female
Humans
Intracellular Signaling Peptides and Proteins
Magnetic Resonance Imaging methods
Mutation
Neurologic Examination methods
Niemann-Pick C1 Protein
Niemann-Pick Disease, Type C genetics
Splenomegaly diagnostic imaging
Splenomegaly etiology
Symptom Assessment methods
Brain diagnostic imaging
Carrier Proteins genetics
Diagnostic Errors prevention & control
Gaucher Disease diagnosis
Membrane Glycoproteins genetics
Niemann-Pick Disease, Type C diagnosis
Niemann-Pick Disease, Type C physiopathology
Sphingomyelin Phosphodiesterase analysis
Subjects
Details
- Language :
- English
- ISSN :
- 1565-1088
- Volume :
- 19
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- The Israel Medical Association journal : IMAJ
- Publication Type :
- Report
- Accession number :
- 28480683