Niemann-Pick Disease Type C Initially Misdiagnosed as Gaucher Disease in a 6 Year Old Kazakh Girl. [electronic resource]
Producer: 20171130Description: 262-264 p. digitalISSN:- 1565-1088
- Bone Marrow -- pathology
- Brain -- diagnostic imaging
- Carrier Proteins -- genetics
- Child, Preschool
- Diagnosis, Differential
- Diagnostic Errors -- prevention & control
- Female
- Gaucher Disease -- diagnosis
- Humans
- Intracellular Signaling Peptides and Proteins
- Magnetic Resonance Imaging -- methods
- Membrane Glycoproteins -- genetics
- Mutation
- Neurologic Examination -- methods
- Niemann-Pick C1 Protein
- Niemann-Pick Disease, Type C -- diagnosis
- Sphingomyelin Phosphodiesterase -- analysis
- Splenomegaly -- diagnostic imaging
- Symptom Assessment -- methods
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Publication Type: Case Reports; Letter
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