1 | ALG1, ALG3, ALG6, ALG8, ALG9, B4GALT1, CDG1C, CDG1D, CDG1H, CDG1K, CDG1L, CDG1U, CDG2E, CDG2F, CDG2G, CDG2H, CDG2I, CDG2M, COG1, COG5, COG7, COG8, DPM2, SLC35A2
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| Congenital disorders of glycosylation with emphasis on cerebellar involvement.
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| Barone R, Fiumara A, Jaeken J.
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| Semin Neurol 34(3):357-66. doi: 10.1055/s-0034-1387197. Epub 2014 Sep 5. Review. 2014
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2 | ALG8, CDG1H
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| A new case of ALG8 deficiency (CDG Ih).
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| Vesela K, Honzik T, Hansikova H, Haeuptle MA, Semberova J, Stranak Z, Hennet T, Zeman J.
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| J Inherit Metab Dis Inherit Metab Dis. 2009 Aug 18. [Epub ahead of print]
2009
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3 | ALG8, CDG1H
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| Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.
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| Stölting T, Omran H, Erlekotte A, Denecke J, Reunert J, Marquardt T.
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| Mol Genet Metab ol Genet Metab. 2009 Jun 24. [Epub ahead of print]
2009
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4 | ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, CDG1A, CDG1B, CDG1C, CDG1D, CDG1E, CDG1F, CDG1G, CDG1H, CDG1I, CDG1J, CDG1K, CDG1L, CDG1N, CDG1O, DK1D, DOLK, DPAGT1, DPM1, DPM3, MPDU1, MPI, PMM2, RFT1
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| Congenital disorders of glycosylation: An update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
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| Haeuptle MA, Hennet T.
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| Hum Mutat um Mutat. 2009 Oct 27. [Epub ahead of print] 2009
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5 | ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, CDG1A, CDG1B, CDG1C, CDG1D, CDG1E, CDG1F, CDG1G, CDG1H, CDG1I, CDG1J, CDG1K, CDG1L, CDG2A, CDG2B, CDG2E, CDG2G, CDG2H, COG1, COG7, COG8, DPAGT1, DPM1, MGAT2, MOGS, MPDU1, MPI, PMM2
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| Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.
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| Leroy JG.
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| Pediatr Res 60(6):643-56. Epub 2006 Oct 25. 2006
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6 | ABHD13, ABHD14B, ALG8, C12orf39, C19orf25, CCDC142, CHID1, DBNDD2, ELOVL5, FAM174B, FGFBP3, FLOWER, GLB1L2, GPR34, JAGN1, KLHL21, LDLRAD3, LEMD2, RSB66, SLC38A9
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| Signal Sequence and Keyword Trap in silico for Selection of Full-Length Human cDNAs Encoding Secretion or Membrane Proteins from Oligo-Capped cDNA Libraries.
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| Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T.
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| DNA Res 12(2):117-26. 2005
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7 | CDG1H, ALG8
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| Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).
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| Schollen E, Frank CG, Keldermans L, Reyntjens R, Grubenmann CE, Clayton PT, Winchester BG, Smeitink J, Wevers RA, Aebi M, Hennet T, Matthijs G.
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| J Med Genet 41(7):550-6. No abstract available. 2004
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8 | CDG1H, ALG8
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| A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation.
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| Chantret I, Dancourt J, Dupre T, Delenda C, Bucher S, Vuillaumier-Barrot S, Ogier de Baulny H, Peletan C, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE.
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| J Biol Chem 278(11):9962-71. Epub 2002 Dec 11. 2003
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