PubMed for Bookshelf ID: 1463434

Year	Number of Results
1978	1
1981	1
1986	1
1988	3
1989	1
1990	3
1991	1
1992	1
1994	1
1996	1
1997	3
1998	2
1999	5
2000	3
2001	5
2002	6
2003	2
2004	5
2005	8
2006	5
2007	6
2008	8
2009	10
2010	9
2011	9
2012	9
2013	8
2014	5
2015	15
2016	11
2017	11
2018	2
2024	0

1

Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome.

Hannah-Shmouni F, Cruz V, Schulze A, Mercimek-Andrews S. Hannah-Shmouni F, et al. Am J Med Genet A. 2018 Jun;176(6):1411-1415. doi: 10.1002/ajmg.a.38696. Epub 2018 Apr 16. Am J Med Genet A. 2018. PMID: 29663633

2

APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.

Guéant JL, Chéry C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouët D, Raby BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS. Guéant JL, et al. Nat Commun. 2018 Jan 4;9(1):67. doi: 10.1038/s41467-017-02306-5. Nat Commun. 2018. PMID: 29302025 Free PMC article.

3

Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.

Almannai M, Marom R, Divin K, Scaglia F, Sutton VR, Craigen WJ, Lee B, Burrage LC, Graham BH. Almannai M, et al. Mol Genet Metab. 2017 Sep;122(1-2):60-66. doi: 10.1016/j.ymgme.2017.06.011. Epub 2017 Jun 29. Mol Genet Metab. 2017. PMID: 28693988 Free PMC article.

4

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

Fettelschoss V, Burda P, Sagné C, Coelho D, De Laet C, Lutz S, Suormala T, Fowler B, Pietrancosta N, Gasnier B, Bornhauser B, Froese DS, Baumgartner MR. Fettelschoss V, et al. J Biol Chem. 2017 Jul 14;292(28):11980-11991. doi: 10.1074/jbc.M117.784819. Epub 2017 Jun 1. J Biol Chem. 2017. PMID: 28572511 Free PMC article.

5

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

Quintana AM, Yu HC, Brebner A, Pupavac M, Geiger EA, Watson A, Castro VL, Cheung W, Chen SH, Watkins D, Pastinen T, Skovby F, Appel B, Rosenblatt DS, Shaikh TH. Quintana AM, et al. Hum Mol Genet. 2017 Aug 1;26(15):2838-2849. doi: 10.1093/hmg/ddx157. Hum Mol Genet. 2017. PMID: 28449119 Free PMC article.

6

X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.

Scalais E, Osterheld E, Weitzel C, De Meirleir L, Mataigne F, Martens G, Shaikh TH, Coughlin CR 2nd, Yu HC, Swanson M, Friederich MW, Scharer G, Helbling D, Wendt-Andrae J, Van Hove JLK. Scalais E, et al. Pediatr Neurol. 2017 Jun;71:65-69. doi: 10.1016/j.pediatrneurol.2016.12.003. Epub 2017 Jan 7. Pediatr Neurol. 2017. PMID: 28363510

7

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

Liu J, Peng Y, Zhou N, Liu X, Meng Q, Xu H, Zhao S. Liu J, et al. Orphanet J Rare Dis. 2017 Mar 21;12(1):58. doi: 10.1186/s13023-017-0610-8. Orphanet J Rare Dis. 2017. PMID: 28327205 Free PMC article.

8

Thrombotic microangiopathy caused by methionine synthase deficiency: diagnosis and treatment pitfalls.

Vaisbich MH, Braga A, Gabrielle M, Bueno C, Piazzon F, Kok F. Vaisbich MH, et al. Pediatr Nephrol. 2017 Jun;32(6):1089-1092. doi: 10.1007/s00467-017-3615-6. Epub 2017 Feb 16. Pediatr Nephrol. 2017. PMID: 28210839

9

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

Ahrens-Nicklas RC, Whitaker AM, Kaplan P, Cuddapah S, Burfield J, Blair J, Brochi L, Yudkoff M, Ficicioglu C. Ahrens-Nicklas RC, et al. Genet Med. 2017 Aug;19(8):926-935. doi: 10.1038/gim.2016.214. Epub 2017 Feb 2. Genet Med. 2017. PMID: 28151490 Free PMC article.

10

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

Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR, Dionisi-Vici C. Huemer M, et al. J Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30. J Inherit Metab Dis. 2017. PMID: 27905001 Free PMC article. Review.

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