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Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form

MedGen UID:
383883
Concept ID:
C1856303
Disease or Syndrome
Synonyms: Glycogen storage disease IV, fatal perinatal neuromuscular; Gsd IV, neuromuscular form, fatal perinatal
 
Monarch Initiative: MONDO:0017697
OMIM®: 232500; 607839
Orphanet: ORPHA308655

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGlycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form

Recent clinical studies

Diagnosis

Yu W, Brundler MA, Wright JR Jr
Pediatr Dev Pathol 2018 Jul-Aug;21(4):423-427. Epub 2017 May 12 doi: 10.1177/1093526617707852. PMID: 28497716
Lamperti C, Salani S, Lucchiari S, Bordoni A, Ripolone M, Fagiolari G, Fruguglietti ME, Crugnola V, Colombo C, Cappellini A, Prelle A, Bresolin N, Comi GP, Moggio M
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S161-8. Epub 2009 Apr 8 doi: 10.1007/s10545-009-1134-8. PMID: 19357989
Giuffrè B, Parini R, Rizzuti T, Morandi L, van Diggelen OP, Bruno C, Giuffrè M, Corsello G, Mosca F
J Inherit Metab Dis 2004;27(5):609-19. doi: 10.1023/b:boli.0000042980.45692.bb. PMID: 15669676

Prognosis

Yu W, Brundler MA, Wright JR Jr
Pediatr Dev Pathol 2018 Jul-Aug;21(4):423-427. Epub 2017 May 12 doi: 10.1177/1093526617707852. PMID: 28497716
Li SC, Hwu WL, Lin JL, Bali DS, Yang C, Chu SM, Chien YH, Chou HC, Chen CY, Hsieh WS, Tsao PN, Chen YT, Lee NC
J Child Neurol 2012 Feb;27(2):204-8. Epub 2011 Sep 13 doi: 10.1177/0883073811415107. PMID: 21917543
Lamperti C, Salani S, Lucchiari S, Bordoni A, Ripolone M, Fagiolari G, Fruguglietti ME, Crugnola V, Colombo C, Cappellini A, Prelle A, Bresolin N, Comi GP, Moggio M
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S161-8. Epub 2009 Apr 8 doi: 10.1007/s10545-009-1134-8. PMID: 19357989
Giuffrè B, Parini R, Rizzuti T, Morandi L, van Diggelen OP, Bruno C, Giuffrè M, Corsello G, Mosca F
J Inherit Metab Dis 2004;27(5):609-19. doi: 10.1023/b:boli.0000042980.45692.bb. PMID: 15669676
Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C
Neurology 2004 Sep 28;63(6):1053-8. doi: 10.1212/01.wnl.0000138429.11433.0d. PMID: 15452297

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