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Select item 105367071.

Late-onset cblC defect: clinical, biochemical and molecular analysis

Si Ding, Shiying Ling, Lili Liang, Wenjuan Qiu, Huiwen Zhang, Ting Chen, Xia Zhan, Feng Xu, Xuefan Gu, Lianshu Han

Orphanet J Rare Dis. 2023; 18: 306. Published online 2023 Sep 28. doi: 10.1186/s13023-023-02890-4

PMCID:: PMC10536707

Abstract Article PDF–1.2M

Select item 102982282.

Folate and Cobalamin Deficiencies during Pregnancy Disrupt the Glucocorticoid Response in Hypothalamus through N-Homocysteinilation of the Glucocorticoid Receptor

Arnaud Michel, Tunay Kokten, Lynda Saber-Cherif, Rémy Umoret, Jean-Marc Alberto, Déborah Helle, Amélia Julien, Jean-Luc Daval, Jean-Louis Guéant, Carine Bossenmeyer-Pourié, Grégory Pourié

Int J Mol Sci. 2023 Jun; 24(12): 9847. Published online 2023 Jun 7. doi: 10.3390/ijms24129847

PMCID:: PMC10298228

Abstract Article PDF–4.9M

Select item 89239793.

Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene

Faith Pangilinan, David Watkins, David Bernard, Yue Chen, Ningzheng Dong, Qingyu Wu, Hatice Ozel-Abaan, Manjit Kaur, Michele Caggana, Mark Morrissey, Marilyn L. Browne, James L. Mills, Carol Van Ryzin, Oleg Shchelochkov, Jennifer Sloan, Charles P. Venditti, Kyriakie Sarafoglou, David S. Rosenblatt, Denise M. Kay, Lawrence C. Brody

Am J Med Genet A. Author manuscript; available in PMC 2022 Apr 1.

Published in final edited form as: Am J Med Genet A. 2022 Apr; 188(4): 1124–1141. Published online 2022 Feb 2. doi: 10.1002/ajmg.a.62627

PMCID:: PMC8923979

Abstract Article PDF–706K

Select item 88120484.

Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists

Silvia Kalantari, Brigida Brezzi, Valeria Bracciamà, Antonella Barreca, Paolo Nozza, Tiziana Vaisitti, Antonio Amoroso, Silvia Deaglio, Marco Manganaro, Francesco Porta, Marco Spada

Orphanet J Rare Dis. 2022; 17: 33. Published online 2022 Feb 2. doi: 10.1186/s13023-022-02179-y

PMCID:: PMC8812048

Abstract Article PDF–2.9M

Select item 86062155.

Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis

Narae Hwang, Ja‐Hyun Jang, Eun‐Hae Cho, Rihwa Choi, Suk‐Joo Choi, Hyung‐Doo Park

Mol Genet Genomic Med. 2021 Nov; 9(11): e1838. Published online 2021 Oct 16. doi: 10.1002/mgg3.1838

PMCID:: PMC8606215

Abstract Article PDF–506K

Select item 84179296.

Loss of the Vitamin B-12 Transport Protein Tcn2 Results in Maternally Inherited Growth and Developmental Defects in Zebrafish

Courtney R Benoit, Darren J Walsh, Levan Mekerishvili, Nadia Houerbi, Abigail E Stanton, David M McGaughey, Lawrence C Brody

J Nutr. 2021 Sep; 151(9): 2522–2532. Published online 2021 Jun 16. doi: 10.1093/jn/nxab151

PMCID:: PMC8417929

Abstract Article PDF–5.1M

Select item 83337537.

Cerebral CT findings in methylmalonic acid propionic acidemias.

S S Gebarski, T O Gabrielsen, J E Knake, J T Latack

AJNR Am J Neuroradiol. 1983 Jul-Aug; 4(4): 955-7.

PMCID:: PMC8333753

Summary PDF–1.6M

Select item 82834788.

Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia

Berna ŞEKER YILMAZ, Deniz KÖR, Fatma Derya BULUT, Sebile KILAVUZ, Serdar CEYLANER, Halise Neslihan ÖNENLİ MUNGAN

Turk J Med Sci. 2021; 51(3): 1220–1228. Published online 2021 Jun 28. doi: 10.3906/sag-2001-72

PMCID:: PMC8283478

Abstract Article PDF–219K

Select item 79452119.

Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type

Ting Chen, Lili Liang, Huiwen Zhang, Jun Ye, Wenjuan Qiu, Bing Xiao, Hong Zhu, Lei Wang, Feng Xu, Zhuwen Gong, Xuefan Gu, Lianshu Han

Orphanet J Rare Dis. 2021; 16: 125. Published online 2021 Mar 10. doi: 10.1186/s13023-021-01762-z

PMCID:: PMC7945211

Abstract Article PDF–850K

Select item 709980010.

Defining the plasma folate concentration associated with the red blood cell folate concentration threshold for optimal neural tube defects prevention: a population-based, randomized trial of folic acid supplementation

Meng-Yu Chen, Charles E Rose, Yan Ping Qi, Jennifer L Williams, Lorraine F Yeung, Robert J Berry, Ling Hao, Michael J Cannon, Krista S Crider

Am J Clin Nutr. Author manuscript; available in PMC 2020 May 1.

Published in final edited form as: Am J Clin Nutr. 2019 May 1; 109(5): 1452–1461. doi: 10.1093/ajcn/nqz027

PMCID:: PMC7099800

Abstract Article PDF–1.0M

Select item 693499611.

Deletion in the Cobalamin Synthetase W Domain–Containing Protein 1 Gene Is associated with Congenital Anomalies of the Kidney and Urinary Tract

Shoichiro Kanda, Masaki Ohmuraya, Hiroyuki Akagawa, Shigeru Horita, Yasuhiro Yoshida, Naoto Kaneko, Noriko Sugawara, Kiyonobu Ishizuka, Kenichiro Miura, Yutaka Harita, Toshiyuki Yamamoto, Akira Oka, Kimi Araki, Toru Furukawa, Motoshi Hattori

J Am Soc Nephrol. 2020 Jan; 31(1): 139–147. Published online 2019 Dec 20. doi: 10.1681/ASN.2019040398

PMCID:: PMC6934996

Abstract Article

Select item 655122412.

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

Martina Huemer, Regina Mulder-Bleile, Patricie Burda, D. Sean Froese, Terttu Suormala, Bruria Ben Zeev, Patrick Chinnery, Carlo Dionisi-Vici, Dries Dobbelaere, Gülden Gökcay, Johannes Häberle, Alexander Lossos, Eugen Mengel, Andrew Morris, Klary E. Niezen-Koning, Barbara Plecko, Rosella Parini, Dariusz Rokicki, Manuel Schiff, Mareike Schimmel, Adrian Sewell, Wolfgang Sperl, Ute Spiekerkötter, Beat Steinmann, Grazia Tadeucci, Jose Trejo, Friedrich Trefz, Megumi Tsuji, María Antònia Vilaseca, Jürgen-Christoph von Kleist-Retzow, Valerie Walker, Jiri Zeman, Matthias R. Baumgartner, Brian Fowler

J Inherit Metab Dis. Author manuscript; available in PMC 2019 Jun 5.

Published in final edited form as: J Inherit Metab Dis. 2016 Jan 1; 39(1): 115–124. Published online 2015 May 30. doi: 10.1007/s10545-015-9860-6

PMCID:: PMC6551224

Abstract Article PDF–748K

Select item 652149413.

Distinct clinical, neuroimaging and genetic profiles of late-onset cobalamin C defects (cb1C): a report of 16 Chinese cases

Xianling Wang, Yanhui Yang, Xuying Li, Cunjiang Li, Chaodong Wang

Orphanet J Rare Dis. 2019; 14: 109. Published online 2019 May 15. doi: 10.1186/s13023-019-1058-9

PMCID:: PMC6521494

Abstract Article PDF–1.2M

Select item 641303914.

Developmental Impairments in a Rat Model of Methyl Donor Deficiency: Effects of a Late Maternal Supplementation with Folic Acid

Andréa Geoffroy, Lynda Saber-Cherif, Grégory Pourié, Déborah Helle, Rémy Umoret, Jean-Louis Guéant, Carine Bossenmeyer-Pourié, Jean-Luc Daval

Int J Mol Sci. 2019 Feb; 20(4): 973. Published online 2019 Feb 23. doi: 10.3390/ijms20040973

PMCID:: PMC6413039

Abstract Article PDF–3.4M

Select item 637343615.

Lifestyle, metabolite, and genetic determinants of formate concentrations in a cross-sectional study in young, healthy adults

John T Brosnan, James L Mills, Per M Ueland, Barry Shane, Ruzong Fan, Chi-Yang Chiu, Faith Pangilinan, Lawrence C Brody, Margaret E Brosnan, Theerawat Pongnopparat, Anne M Molloy

Am J Clin Nutr. 2018 Mar; 107(3): 345–354. Published online 2018 Mar 16. doi: 10.1093/ajcn/nqx065

PMCID:: PMC6373436

Abstract Article PDF–2.1M

Select item 605706016.

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

Sandra Brasil, Fátima Leal, Ana Vega, Rosa Navarrete, María Jesús Ecay, Lourdes R. Desviat, Casandra Riera, Natàlia Padilla, Xavier de la Cruz, Mari Luz Couce, Elena Martin-Hernández, Ana Morais, Consuelo Pedrón, Luis Peña-Quintana, Miriam Rigoldi, Norma Specola, Isabel Tavares de Almeida, Inmaculada Vives, Raquel Yahyaoui, Pilar Rodríguez-Pombo, Magdalena Ugarte, Celia Pérez-Cerda, Begoña Merinero, Belén Pérez

Orphanet J Rare Dis. 2018; 13: 125. Published online 2018 Jul 24. doi: 10.1186/s13023-018-0862-y

PMCID:: PMC6057060

Abstract Article PDF–2.0M

Select item 561178317.

Association of TCN2 rs1801198 c.776G>C polymorphism with markers of one-carbon metabolism and related diseases: a systematic review and meta-analysis of genetic association studies

Abderrahim Oussalah, Julien Levy, Pierre Filhine-Trésarrieu, Fares Namour, Jean-Louis Guéant

Am J Clin Nutr. 2017 Oct; 106(4): 1142–1156. Published online 2017 Aug 16. doi: 10.3945/ajcn.117.156349

PMCID:: PMC5611783

Abstract Article PDF–1.9M

Select item 551208918.

Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B₁₂-trafficking proteins ABCD4 and LMBD1

Victoria Fettelschoss, Patricie Burda, Corinne Sagné, David Coelho, Corinne De Laet, Seraina Lutz, Terttu Suormala, Brian Fowler, Nicolas Pietrancosta, Bruno Gasnier, Beat Bornhauser, D. Sean Froese, Matthias R. Baumgartner

J Biol Chem. 2017 Jul 14; 292(28): 11980–11991. Published online 2017 Jun 1. doi: 10.1074/jbc.M117.784819

PMCID:: PMC5512089

Abstract Article PDF–2.3M

Select item 547152419.

Maternofetal transport of vitamin B₁₂: role of TCblR/CD320 and megalin

Kaveri Arora, Jeffrey M. Sequeira, Edward V. Quadros

FASEB J. 2017 Jul; 31(7): 3098–3106. Published online 2017 Mar 28. doi: 10.1096/fj.201700025R

PMCID:: PMC5471524

Abstract Article

Select item 520385920.

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Martina Huemer, Daria Diodato, Bernd Schwahn, Manuel Schiff, Anabela Bandeira, Jean-Francois Benoist, Alberto Burlina, Roberto Cerone, Maria L. Couce, Angeles Garcia-Cazorla, Giancarlo la Marca, Elisabetta Pasquini, Laura Vilarinho, James D. Weisfeld-Adams, Viktor Kožich, Henk Blom, Matthias R. Baumgartner, Carlo Dionisi-Vici

J Inherit Metab Dis. 2017; 40(1): 21–48. Published online 2016 Nov 30. doi: 10.1007/s10545-016-9991-4

PMCID:: PMC5203859

Abstract Article PDF–909K

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