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Select item 79768361.

Early-onset Combined Methylmalonic Aciduria and Homocystinuria: Neuroradiologic Findings

Andrea Rossi, Roberto Cerone, Roberta Biancheri, Rosanna Gatti, Maria Cristina Schiaffino, Claudio Fonda, Enrico Zammarchi, Paolo Tortori-Donati

AJNR Am J Neuroradiol. 2001 Mar; 22(3): 554–563.

PMCID:: PMC7976836

Abstract Article PDF–394K

Select item 60823642.

Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience

Rebecca C. Ahrens-Nicklas, Ashley M. Whitaker, Paige Kaplan, Sanmati Cuddapah, Jessica Burfield, Jennifer Blair, Ligia Brochi, Marc Yudkoff, Can Ficicioglu

Genet Med. Author manuscript; available in PMC 2018 Aug 8.

Published in final edited form as: Genet Med. 2017 Aug; 19(8): 926–935. Published online 2017 Feb 2. doi: 10.1038/gim.2016.214

PMCID:: PMC6082364

Abstract Article PDF–906K

Select item 58862343.

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

Anita M. Quintana, Hung-Chun Yu, Alison Brebner, Mihaela Pupavac, Elizabeth A. Geiger, Abigail Watson, Victoria L. Castro, Warren Cheung, Shu-Huang Chen, David Watkins, Tomi Pastinen, Flemming Skovby, Bruce Appel, David S. Rosenblatt, Tamim H. Shaikh

Hum Mol Genet. 2017 Aug 1; 26(15): 2838–2849. Published online 2017 Apr 25. doi: 10.1093/hmg/ddx157

PMCID:: PMC5886234

Abstract Article PDF–1.0M

Select item 57543674.

A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, Javad Nadaf, David Coelho, Thomas Josse, Justine Flayac, Aurélie Robert, Isabelle Koscinski, Isabelle Gastin, Pierre Filhine-Tresarrieu, Mihaela Pupavac, Alison Brebner, David Watkins, Tomi Pastinen, Alexandre Montpetit, Fadi Hariri, David Tregouët, Benjamin A Raby, Wendy K. Chung, Pierre-Emmanuel Morange, D. Sean Froese, Matthias R. Baumgartner, Jean-François Benoist, Can Ficicioglu, Virginie Marchand, Yuri Motorin, Chrystèle Bonnemains, François Feillet, Jacek Majewski, David S. Rosenblatt

Nat Commun. 2018; 9: 67. Published online 2018 Jan 4. doi: 10.1038/s41467-017-02306-5

Correction in:: Nat Commun. 2018; 9: 554.

PMCID:: PMC5754367

Abstract Article PDF–3.2M

Select item 56128795.

Milder Clinical and Biochemical Phenotypes Associated with the c.482G>A (p.Arg161Gln) Pathogenic Variant in Cobalamin C Disease: Implications for Management and Screening

Mohammed Almannai, Ronit Marom, Kristian Divin, Fernando Scaglia, V. Reid Sutton, William J. Craigen, Brendan Lee, Lindsay C. Burrage, Brett H. Graham

Mol Genet Metab. Author manuscript; available in PMC 2018 Sep 1.

Published in final edited form as: Mol Genet Metab. 2017 Sep; 122(1-2): 60–66. Published online 2017 Jun 29. doi: 10.1016/j.ymgme.2017.06.011

PMCID:: PMC5612879

Abstract Article PDF–393K

Select item 55850976.

Vitamin B₁₂ Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient

E. Maines, G. Morandi, G. Gugelmo, F. Ion-Popa, N. Campostrini, A. Pasini, M. Vincenzi, F. Teofoli, M. Camilot, A. Bordugo

JIMD Rep. 2017; 35: 29–31. Published online 2016 Nov 18. doi: 10.1007/8904_2016_20

PMCID:: PMC5585097

Abstract Article PDF–87K

Select item 55120897.

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 53682128.

Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity

Bodo B. Beck, FrancJan van Spronsen, Arjan Diepstra, Rolf M. F. Berger, Martin Kömhoff

Pediatr Nephrol. 2017; 32(5): 733–741. Published online 2016 Jun 11. doi: 10.1007/s00467-016-3399-0

PMCID:: PMC5368212

Abstract Article PDF–672K

Select item 53600339.

Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients

Jinrong Liu, Yun Peng, Nan Zhou, Xiaorong Liu, Qun Meng, Hui Xu, Shunying Zhao

Orphanet J Rare Dis. 2017; 12: 58. Published online 2017 Mar 21. doi: 10.1186/s13023-017-0610-8

PMCID:: PMC5360033

Abstract Article PDF–579K

Select item 520385910.

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

Select item 506501411.

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency

Brian P. Brooks, Amy H. Thompson, Jennifer Sloan, Irini Manoli, Nuria Carrillo-Carrasco, Wadih M. Zein, Charles P. Venditti

Ophthalmology. Author manuscript; available in PMC 2017 Mar 1.

Published in final edited form as: Ophthalmology. 2016 Mar; 123(3): 571–582. Published online 2016 Jan 26. doi: 10.1016/j.ophtha.2015.10.041

PMCID:: PMC5065014

Abstract Article PDF–764K

Select item 478938512.

Successful intrauterine treatment of a patient with cobalamin C defect

Friedrich K. Trefz, Dagmar Scheible, Georg Frauendienst-Egger, Martina Huemer, Terttu Suomala, Brian Fowler, Dorothea Haas, Matthias R. Baumgartner

Mol Genet Metab Rep. 2016 Mar; 6: 55–59. Published online 2016 Feb 4. doi: 10.1016/j.ymgmr.2016.01.005

PMCID:: PMC4789385

Abstract Article PDF–586K

Select item 477261913.

A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing

Panayiotis Constantinou, Mariella D'Alessandro, Paul Lochhead, Shalaka Samant, W. Michael Bisset, Catherine Hauptfleisch, John Dean, Deciphering Developmental Disorders Study Group

Mol Syndromol. 2016 Feb; 6(5): 254–258. Published online 2015 Oct 14. doi: 10.1159/000441134

PMCID:: PMC4772619

Abstract Article PDF–199K

Select item 475291214.

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: Cobalamin C deficiency (cblC).

Irini Manoli, Jennifer G. Myles, Jennifer L. Sloan, Nuria Carrillo-Carrasco, Eva Morava, Kevin A. Strauss, Holmes Morton, Charles P. Venditti

Genet Med. Author manuscript; available in PMC 2016 May 18.

Published in final edited form as: Genet Med. 2016 Apr; 18(4): 396–404. Published online 2015 Aug 13. doi: 10.1038/gim.2015.107

PMCID:: PMC4752912

Abstract Article PDF–307K

Select item 473395915.

A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder

COSTAS KOUFARIS, ANGELOS ALEXANDROU, GEORGE A. TANTELES, VIOLETTA ANASTASIADOU, CAROLINA SISMANI

Biomed Rep. 2016 Feb; 4(2): 215–218. Published online 2015 Dec 18. doi: 10.3892/br.2015.559

PMCID:: PMC4733959

Abstract Article PDF–394K

Select item 470592316.

Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B₁₂ Trafficking

D. Sean Froese, Jolanta Kopec, Fiona Fitzpatrick, Marion Schuller, Thomas J. McCorvie, Rod Chalk, Tanja Plessl, Victoria Fettelschoss, Brian Fowler, Matthias R. Baumgartner, Wyatt W. Yue

J Biol Chem. 2015 Dec 4; 290(49): 29167–29177. Published online 2015 Oct 19. doi: 10.1074/jbc.M115.683268