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Items: 1 to 20 of 44

1.
The clinical course and genetic defect in the PCFT gene in a 27-year old woman with hereditary folate malabsorption
Sang Hee Min, Sun Young Oh, George I. Karp, Mortimer Poncz, Rongbao Zhao, I. David Goldman
J Pediatr. Author manuscript; available in PMC 2013 Nov 20.
Published in final edited form as: J Pediatr. 2008 Sep; 153(3): 10.1016/j.jpeds.2008.04.009. doi: 10.1016/j.jpeds.2008.04.009
PMCID:
PMC3835188
AbstractArticlePDF–251K
2.
The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption
Rongbao Zhao, Sang Hee Min, Andong Qiu, Antoinette Sakaris, Gary L. Goldberg, Claudio Sandoval, J. Jeffrey Malatack, David S. Rosenblatt, I. David Goldman
Blood. 2007 Aug 15; 110(4): 1147–1152. Prepublished online 2007 Apr 19. doi: 10.1182/blood-2007-02-077099
PMCID:
PMC1939898
AbstractArticle
3.
A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption
Esther Meyer, Manju A. Kurian, Shanaz Pasha, Richard C. Trembath, Trevor Cole, Eamonn R. Maher
Mol Genet Metab. 2010 Mar; 99(3): 325–328. doi: 10.1016/j.ymgme.2009.11.004
PMCID:
PMC2852677
AbstractArticle
4.
Properties of the Arg376 residue of the proton-coupled folate transporter (PCFT-SLC46A1) and a glutamine mutant causing hereditary folate malabsorption
Kris Mahadeo, Ndeye Diop-Bove, Daniel Shin, Ersin Selcuk Unal, Juliana Teo, Rongbao Zhao, Min-Hwang Chang, Andreas Fulterer, Michael F. Romero, I. David Goldman
Am J Physiol Cell Physiol. 2010 Nov; 299(5): C1153–C1161. Published online 2010 Aug 4. doi: 10.1152/ajpcell.00113.2010
PMCID:
PMC2980313
AbstractArticle
5.
Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption
Daniel Sanghoon Shin, Sang Hee Min, Laura Russell, Rongbao Zhao, Andras Fiser, I. David Goldman
Blood. 2010 Dec 9; 116(24): 5162–5169. Prepublished online 2010 Aug 30. doi: 10.1182/blood-2010-06-291237
PMCID:
PMC3012536
AbstractArticle
6.
Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption
Daniel Sanghoon Shin, Kris Mahadeo, Sang Hee Min, Ndeye Diop-Bove, Peter Clayton, Rongbao Zhao, I. David Goldman
Mol Genet Metab. Author manuscript; available in PMC 2012 May 1.
Published in final edited form as: Mol Genet Metab. 2011 May; 103(1): 33–37. Published online 2011 Jan 25. doi: 10.1016/j.ymgme.2011.01.008
PMCID:
PMC3081934
AbstractArticlePDF–576K
7.
A P425R mutation of the proton-coupled folate transporter causing hereditary folate malabsorption produces a highly selective alteration in folate binding
Daniel Sanghoon Shin, Rongbao Zhao, Enghui H. Yap, Andras Fiser, I. David Goldman
Am J Physiol Cell Physiol. 2012 May 1; 302(9): C1405–C1412. Published online 2012 Feb 15. doi: 10.1152/ajpcell.00435.2011
PMCID:
PMC3361945
AbstractArticle
8.
Functional roles of the A335 and G338 residues of the proton-coupled folate transporter (PCFT-SLC46A1) mutated in hereditary folate malabsorption
Daniel Sanghoon Shin, Rongbao Zhao, Andras Fiser, David I. Goldman
Am J Physiol Cell Physiol. 2012 Oct 15; 303(8): C834–C842. Published online 2012 Jul 25. doi: 10.1152/ajpcell.00171.2012
PMCID:
PMC3469714
AbstractArticle
9.
A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption
N Diop-Bove, M. Jain, F. Scaglia, I.D. Goldman
Gene. Author manuscript; available in PMC 2014 Sep 25.
Published in final edited form as: Gene. 2013 Sep 25; 527(2): 10.1016/j.gene.2013.06.039. Published online 2013 Jun 28. doi: 10.1016/j.gene.2013.06.039
PMCID:
PMC3836604
AbstractArticlePDF–31K
10.
MUTATION OF THE PROTON-COUPLED FOLATE TRANSPORTER GENE (PCFT-SLC46A1) IN TURKISH SIBLINGS WITH HEREDITARY FOLATE MALABSORPTION
Berna Atabay, Meral Turker, Esra Arun Ozer, Kris Mahadeo, Ndeye Diop-Bove, I. David Goldman
Pediatr Hematol Oncol. Author manuscript; available in PMC 2014 Jan 8.
Published in final edited form as: Pediatr Hematol Oncol. 2010 Nov; 27(8): 10.3109/08880018.2010.481705. doi: 10.3109/08880018.2010.481705
PMCID:
PMC3885236
AbstractArticlePDF–104K
11.
Prevalence of a Loss-of-Function Mutation in the Proton-Coupled Folate Transporter Gene (PCFT-SLC46A1) Causing Hereditary Folate Malabsorption in Puerto Rico
Kris M. Mahadeo, Ndeye Diop-Bove, Sonia I. Ramirez, Carmen L. Cadilla, Enid Rivera, Madelena Martin, Norma B. Lerner, Lisa DiAntonio, Salvatore Duva, Pedro J. Santiago-Borrero, I. David Goldman
J Pediatr. Author manuscript; available in PMC 2014 Feb 26.
Published in final edited form as: J Pediatr. 2011 Oct; 159(4): 623–7.e1. Published online 2011 Apr 13. doi: 10.1016/j.jpeds.2011.03.005
PMCID:
PMC3935241
AbstractArticlePDF–165K
12.
CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency
A. Torres, S. A. Newton, B. Crompton, A. Borzutzky, E. J. Neufeld, L. Notarangelo, G. T. Berry
JIMD Rep. 2015; 24: 91–96. Published online 2015 May 26. doi: 10.1007/8904_2015_445
PMCID:
PMC4582027
AbstractArticlePDF–161K
13.
Hereditary Folate Malabsorption presenting as neutropenic fever in a newborn from the first Palestinian family with the novel SLC46A1-mutation, A-case-report
Fajr M.A. Sarhan, Afnan W.M. Jobran, Islam I.A. Mansour, Osama N. Dukmak, Mohammed A.M. Rashed, Dina M.A. Hamdan, Israa A.A. Abdalhadi
Ann Med Surg (Lond) 2022 Aug; 80: 104253. Published online 2022 Jul 31. doi: 10.1016/j.amsu.2022.104253
PMCID:
PMC9422282
AbstractArticlePDF–1.0M
14.
An infantile case of hereditary folate malabsorption with sudden development of pulmonary hemorrhage: a case report
Yukari Sakurai, Naohisa Toriumi, Takeo Sarashina, Toru Ishioka, Marino Nagata, Hiroya Kobayashi, Hiroshi Azuma
J Med Case Rep. 2022; 16: 268. Published online 2022 Jun 30. doi: 10.1186/s13256-022-03448-x
PMCID:
PMC9245286
AbstractArticlePDF–1.0M
15.
The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption
Rongbao Zhao, Srinivas Aluri, I. David Goldman
Mol Aspects Med. Author manuscript; available in PMC 2018 Feb 1.
Published in final edited form as: Mol Aspects Med. 2017 Feb; 53: 57–72. Published online 2016 Sep 21. doi: 10.1016/j.mam.2016.09.002
PMCID:
PMC5253092
AbstractArticlePDF–1.7M
16.
Hereditary folate malabsorption due to a mutation in the external gate of the proton-coupled folate transporter SLC46A1
Srinivas Aluri, Rongbao Zhao, Charlotte Lubout, Susanna M. I. Goorden, Andras Fiser, I. David Goldman
Blood Adv. 2018 Jan 9; 2(1): 61–68. Published online 2018 Jan 5. doi: 10.1182/bloodadvances.2017012690
PMCID:
PMC5761628
AbstractArticlePDF–1.2M
17.
Hereditary folate malabsorption with a novel mutation on SLC46A1: A case report
Jianmin Tan, Xiujuan Li, Yi Guo, Lingling Xie, Juan Wang, Jiannan Ma, Li Jiang
Medicine (Baltimore) 2017 Dec; 96(50): e8712. Published online 2017 Dec 15. doi: 10.1097/MD.0000000000008712
PMCID:
PMC5815676
AbstractArticlePDF–364K
18.
A proton-coupled folate transporter mutation causing hereditary folate malabsorption locks the protein in an inward-open conformation
He-Qin Zhan, Mitra Najmi, Kai Lin, Srinivas Aluri, Andras Fiser, I. David Goldman, Rongbao Zhao
J Biol Chem. 2020 Nov 13; 295(46): 15650–15661. Published online 2020 Sep 6. doi: 10.1074/jbc.RA120.014757
PMCID:
PMC7667981
AbstractArticlePDF–2.3M
19.
Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases
Emanuela Manea, Paul Gissen, Simon Pope, Simon J. Heales, Spyros Batzios
JIMD Rep. 2018; 39: 7–12. Published online 2017 Jul 7. doi: 10.1007/8904_2017_39
PMCID:
PMC5953899
AbstractArticlePDF–239K
20.
Identification of Tyr residues that enhance folate substrate binding and constrain oscillation of the proton-coupled folate transporter (PCFT-SLC46A1)
Michele Visentin, Ersin Selcuk Unal, Mitra Najmi, Andras Fiser, Rongbao Zhao, I. David Goldman
Am J Physiol Cell Physiol. 2015 Apr 15; 308(8): C631–C641. Published online 2015 Jan 22. doi: 10.1152/ajpcell.00238.2014
PMCID:
PMC4398847
AbstractArticle

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