Keywords: غلظت فولات وراثتی; Hereditary folate malabsorption; Severe combined immunodeficiency; Cytokine profile; Pneumocystis pneumonia; Novel mutations;
مقالات ISI غلظت فولات وراثتی (ترجمه نشده)
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The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption
Keywords: غلظت فولات وراثتی; Proton-coupled folate transporter; PCFT; SLC46A1; Reduced folate carrier; RFC; SLC19A1; Folate receptors; FRα; Folates; Folic acid; Methotrexate; Pemetrexed; Hereditary folate malabsorption; HFM; Cerebral folate deficiency; CFD; 5-Formyltetrahydrofolate
The first Chinese case report of hereditary folate malabsorption with a novel mutation on SLC46A1
Keywords: غلظت فولات وراثتی; Hereditary folate malabsorption; Cerebral folate deficiency; Megaloblastic anemia; Intracranial calcification; Proton-coupled folate transporter; SLC46A1 gene
Folate and thiamine transporters mediated by facilitative carriers (SLC19A1-3 and SLC46A1) and folate receptors
Keywords: غلظت فولات وراثتی; RFC; reduced folate carrier; PCFT; proton-coupled folate transporter; ThTr1; thiamine transporter-1; ThTr2; thiamine transporter-2; FOLR1; folate receptor 1 or FRα; FOLR2; folate receptor 2 or FRβ; CSF; cerebrospinal fluid; HFM; hereditary folate malabs
Prevalence of a Loss-of-Function Mutation in the Proton-Coupled Folate Transporter Gene (PCFT-SLC46A1) Causing Hereditary Folate Malabsorption in Puerto Rico
Keywords: غلظت فولات وراثتی; HFM; Hereditary folate malabsorption; PCFT; Proton-Coupled Folate Transporter; PCR; Polymerase chain reaction;
A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption
Keywords: غلظت فولات وراثتی; Hereditary folate malabsorption; PCFT; SLC46A1; Frameshift mutation; Anemia;
Functional elements in the minimal promoter of the human proton-coupled folate transporter
Keywords: غلظت فولات وراثتی; Folates; Transport; Hereditary folate malabsorption; Promoter; Gene expression
Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter
Keywords: غلظت فولات وراثتی; Hereditary folate malabsorption; PCFT; Folic acid; Severe combined immunodeficiency; Recent thymic emigrants