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Items: 1 to 20 of 110

1.

Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a).

Al-Maawali AA, Miller E, Schulze A, Yoon G, Blaser SI.

Pediatr Radiol. 2014 Feb;44(2):222-5. doi: 10.1007/s00247-013-2782-2. Epub 2013 Sep 15.

PMID:
24037084
2.

Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage.

Stefanits H, Konstantopoulou V, Kuess M, Milenkovic I, Matula C.

J Neurosurg Pediatr. 2014 Nov;14(5):546-9. doi: 10.3171/2014.7.PEDS14102. Epub 2014 Sep 5.

PMID:
25192236
3.

[Clinical and genetic analysis for two children with congenital disturbance of glycosylation with PMM2 gene mutations].

Ren C, Fang F, Huang Y, Cheng H, Dai L.

Zhonghua Er Ke Za Zhi. 2015 Dec;53(12):938-42. Chinese.

PMID:
26887550
4.

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.

Monin ML, Mignot C, De Lonlay P, Héron B, Masurel A, Mathieu-Dramard M, Lenaerts C, Thauvin C, Gérard M, Roze E, Jacquette A, Charles P, de Baracé C, Drouin-Garraud V, Khau Van Kien P, Cormier-Daire V, Mayer M, Ogier H, Brice A, Seta N, Héron D.

Orphanet J Rare Dis. 2014 Dec 11;9:207. doi: 10.1186/s13023-014-0207-4.

5.

Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation.

Neumann LM, von Moers A, Kunze J, Blankenstein O, Marquardt T.

Eur J Pediatr. 2003 Oct;162(10):710-3. Epub 2003 Aug 2.

PMID:
12905014
6.

Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG).

Thiesler CT, Cajic S, Hoffmann D, Thiel C, van Diepen L, Hennig R, Sgodda M, Weiβmann R, Reichl U, Steinemann D, Diekmann U, Huber NM, Oberbeck A, Cantz T, Kuss AW, Körner C, Schambach A, Rapp E, Buettner FF.

Mol Cell Proteomics. 2016 Apr;15(4):1435-52. doi: 10.1074/mcp.M115.054122. Epub 2016 Jan 19.

7.

Abnormal fat distribution in PMM2-CDG.

Wolthuis DF, van Asbeck EV, Kozicz T, Morava E.

Mol Genet Metab. 2013 Nov;110(3):411-3. doi: 10.1016/j.ymgme.2013.08.017. Epub 2013 Sep 7.

PMID:
24063868
8.

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

Serrano M, de Diego V, Muchart J, Cuadras D, Felipe A, Macaya A, Velázquez R, Poo MP, Fons C, O'Callaghan MM, García-Cazorla A, Boix C, Robles B, Carratalá F, Girós M, Briones P, Gort L, Artuch R, Pérez-Cerdá C, Jaeken J, Pérez B, Pérez-Dueñas B.

Orphanet J Rare Dis. 2015 Oct 26;10:138. doi: 10.1186/s13023-015-0358-y.

9.

Congenital disorder of glycosylation type Ia in a Malaysian family: clinical outcome and description of a novel PMM2 mutation.

Thong MK, Fietz M, Nicholls C, Lee MH, Asma O.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S41-4. doi: 10.1007/s10545-009-1031-1. Epub 2009 Jan 26.

PMID:
19165618
10.

Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.

Thompson DA, Lyons RJ, Russell-Eggitt I, Liasis A, Jägle H, Grünewald S.

J Inherit Metab Dis. 2013 Nov;36(6):1039-47. doi: 10.1007/s10545-013-9594-2. Epub 2013 Feb 22.

PMID:
23430200
11.
12.

A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency.

Cline A, Gao N, Flanagan-Steet H, Sharma V, Rosa S, Sonon R, Azadi P, Sadler KC, Freeze HH, Lehrman MA, Steet R.

Mol Biol Cell. 2012 Nov;23(21):4175-87. doi: 10.1091/mbc.E12-05-0411. Epub 2012 Sep 5.

13.

PMM2-CDG: phenotype and genotype in four affected family members.

Bortot B, Cosentini D, Faletra F, Biffi S, De Martino E, Carrozzi M, Severini GM.

Gene. 2013 Dec 1;531(2):506-9. doi: 10.1016/j.gene.2013.07.083. Epub 2013 Aug 26.

PMID:
23988505
14.

Congenital disorders of glycosylation with neonatal presentation.

Resende C, Carvalho C, Alegria A, Oliveira D, Quelhas D, Bandeira A, Proença E.

BMJ Case Rep. 2014 Apr 16;2014. pii: bcr2013010037. doi: 10.1136/bcr-2013-010037.

15.

Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).

Casado M, O'Callaghan MM, Montero R, Pérez-Cerda C, Pérez B, Briones P, Quintana E, Muchart J, Aracil A, Pineda M, Artuch R.

Cerebellum. 2012 Jun;11(2):557-63. doi: 10.1007/s12311-011-0313-y.

PMID:
22012410
16.

Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology.

Aronica E, van Kempen AA, van der Heide M, Poll-The BT, van Slooten HJ, Troost D, Rozemuller-Kwakkel JM.

Acta Neuropathol. 2005 Apr;109(4):433-42. Epub 2005 Feb 16.

PMID:
15714316
17.

[Congenital disorder of glycosylation type Ia (CDG Ia) - underdiagnosed entity?].

Sätilä H, Kuusela AL, Pietilä K, Niinikoski H, Keskinen P.

Duodecim. 2016;132(3):253-9. Review. Finnish.

PMID:
26951030
18.

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.

Vega AI, Pérez-Cerdá C, Abia D, Gámez A, Briones P, Artuch R, Desviat LR, Ugarte M, Pérez B.

J Inherit Metab Dis. 2011 Aug;34(4):929-39. doi: 10.1007/s10545-011-9328-2. Epub 2011 May 4.

PMID:
21541725
19.

Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

Drouin-Garraud V, Belgrand M, Grünewald S, Seta N, Dacher JN, Hénocq A, Matthijs G, Cormier-Daire V, Frébourg T, Saugier-Veber P.

Am J Med Genet. 2001 Jun 1;101(1):46-9.

PMID:
11343337
20.

A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia.

Tayebi N, Andrews DQ, Park JK, Orvisky E, McReynolds J, Sidransky E, Krasnewich DM.

Am J Med Genet. 2002 Mar 15;108(3):241-6.

PMID:
11891694

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