Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations

Y Liu, L Kang, D Li, Y Jin, J Song, H Li… - Journal of Human …, 2019 - nature.com
Cobalamin G (cblG) and cobalamin J (cblJ) defects are rare disorders of cbl metabolism
caused by MTR and ABCD4 mutations, respectively. Patients with atypical biochemical …
被引用次数：9 相关文章

Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations

Y Liu, L Kang, D Li, Y Jin, J Song, H Li… - Journal of Human …, 2019 - hero.epa.gov
Cobalamin G (cblG) and cobalamin J (cblJ) defects are rare disorders of cbl metabolism
caused by MTR and ABCD4 mutations, respectively. Patients with atypical biochemical …

Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations

Y Liu, L Kang, D Li, Y Jin, S Jinqing… - Journal of Human …, 2019 - search.proquest.com
Cobalamin G (cblG) and cobalamin J (cblJ) defects are rare disorders of cbl metabolism
caused by MTR and ABCD4 mutations, respectively. Patients with atypical biochemical …

Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations

Y Liu, L Kang, D Li, Y Jin, J Song… - Journal of human …, 2019 - pubmed.ncbi.nlm.nih.gov
Cobalamin G (cblG) and cobalamin J (cblJ) defects are rare disorders of cbl metabolism
caused by MTR and ABCD4 mutations, respectively. Patients with atypical biochemical …

Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations.

Y Liu, L Kang, D Li, Y Jin, J Song, H Li… - Journal of Human …, 2019 - europepmc.org
Cobalamin G (cblG) and cobalamin J (cblJ) defects are rare disorders of cbl metabolism
caused by MTR and ABCD4 mutations, respectively. Patients with atypical biochemical …