Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease

Antzeko izenburuak

• Identification of a distinct mutation spectrum in the <it>SMPD1</it> gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease
  nork: Zhang Huiwen, et al.
  Argitaratua: (2013-01-01)
• Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease
  nork: Lin, Na, et al.
  Argitaratua: (2014)
• Imprinting at the SMPD1 Locus: Implications for Acid Sphingomyelinase–Deficient Niemann-Pick Disease
  nork: Simonaro, Calogera M., et al.
  Argitaratua: (2006)
• Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients
  nork: Zhang, Huiwen, et al.
  Argitaratua: (2014)
• Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients
  nork: Gong, Zhuwen, et al.
  Argitaratua: (2021)