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About 106 results

ALLMedicine™ Hereditary Folate Malabsorption Center

Research & Reviews  53 results

Child Neurology: Hereditary Folate Malabsorption.
https://doi.org/10.1212/WNL.0000000000012083
Neurology Huddar A, Chiplunkar S et. al.

Apr 24th, 2021 - Child Neurology: Hereditary Folate Malabsorption.|2021|Huddar A,Chiplunkar S,Nagappa M,Govindaraj P,Sinha S,|

Immunodeficiency and inborn disorders of vitamin B12 and folate metabolism.
https://doi.org/10.1097/MCO.0000000000000668
Current Opinion in Clinical Nutrition and Metabolic Care; Watkins D, Rosenblatt DS

May 15th, 2020 - Immune dysfunction, including severe combined immunodeficiency, has been described in genetic disorders affecting the metabolism of the vitamins cobalamin (vitamin B12) and folate. We have reviewed reports of clinical findings in patients with a n...

A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Jap...
https://doi.org/10.1016/j.clim.2019.108256
Clinical Immunology (Orlando, Fla.); Tozawa Y, Abdrabou SSMA et. al.

Sep 8th, 2019 - Hereditary folate malabsorption (HFM) is an autosomal recessive disease caused by mutations in SLC46A1 encoding the proton-coupled folate transporter (PCFT). HFM patients present with various clinical features including megaloblastic anemia, throm...

Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid.
https://doi.org/10.1016/j.pediatrneurol.2019.06.009
Pediatric Neurology; Lubout CMA, Goorden SMI et. al.

Aug 2nd, 2019 - Hereditary folate malabsorption is a multisystem disease owing to biallelic variants in the gene encoding the proton-coupled folate transporter. Hereditary folate malabsorption is treated with folinic acid, aimed to restore blood and cerebrospinal...

Hereditary folate malabsorption with a novel mutation on SLC46A1: A case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815676
Medicine Tan J, Li X et. al.

Feb 2nd, 2018 - Hereditary folate malabsorption (HFM) is characterized by folate deficiency with impaired intestinal folate absorption and impaired folate transport into the central nervous system. Its manifestations mainly include macrocytic anemia, recurrent in...

see more →

Clinicaltrials.gov  53 results

Child Neurology: Hereditary Folate Malabsorption.
https://doi.org/10.1212/WNL.0000000000012083
Neurology Huddar A, Chiplunkar S et. al.

Apr 24th, 2021 - Child Neurology: Hereditary Folate Malabsorption.|2021|Huddar A,Chiplunkar S,Nagappa M,Govindaraj P,Sinha S,|

Immunodeficiency and inborn disorders of vitamin B12 and folate metabolism.
https://doi.org/10.1097/MCO.0000000000000668
Current Opinion in Clinical Nutrition and Metabolic Care; Watkins D, Rosenblatt DS

May 15th, 2020 - Immune dysfunction, including severe combined immunodeficiency, has been described in genetic disorders affecting the metabolism of the vitamins cobalamin (vitamin B12) and folate. We have reviewed reports of clinical findings in patients with a n...

A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Jap...
https://doi.org/10.1016/j.clim.2019.108256
Clinical Immunology (Orlando, Fla.); Tozawa Y, Abdrabou SSMA et. al.

Sep 8th, 2019 - Hereditary folate malabsorption (HFM) is an autosomal recessive disease caused by mutations in SLC46A1 encoding the proton-coupled folate transporter (PCFT). HFM patients present with various clinical features including megaloblastic anemia, throm...

Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid.
https://doi.org/10.1016/j.pediatrneurol.2019.06.009
Pediatric Neurology; Lubout CMA, Goorden SMI et. al.

Aug 2nd, 2019 - Hereditary folate malabsorption is a multisystem disease owing to biallelic variants in the gene encoding the proton-coupled folate transporter. Hereditary folate malabsorption is treated with folinic acid, aimed to restore blood and cerebrospinal...

Hereditary folate malabsorption with a novel mutation on SLC46A1: A case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815676
Medicine Tan J, Li X et. al.

Feb 2nd, 2018 - Hereditary folate malabsorption (HFM) is characterized by folate deficiency with impaired intestinal folate absorption and impaired folate transport into the central nervous system. Its manifestations mainly include macrocytic anemia, recurrent in...

see more →