Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases.

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Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases.

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2017 nî lūn-bûn

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2017年学术文章

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Role of Intramuscular Levofoli ...... rption: Report of Three Cases.

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Role of Intramuscular Levofoli ...... rption: Report of Three Cases.

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Role of Intramuscular Levofoli ...... rption: Report of Three Cases.

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P1476

Role of Intramuscular Levofoli ...... rption: Report of Three Cases.

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P2093

Emanuela Manea

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Simon J Heales

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Spyros Batzios

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P2860

Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption

The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption

Hereditary folate malabsorption: family report and review of the literature.

Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico.

Impact of folate therapy on combined immunodeficiency secondary to hereditary folate malabsorption.

Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption.

Hereditary folate malabsorption with extensive intracranial calcification.

CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency

Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption

Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter.

P304

7-12

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scholarly article

P356

10.1007/8904_2017_39

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P478

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P50

Simon Pope

Paul Gissen

P577

2017-07-07T00:00:00Z

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P698

28685492

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5953899

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