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Beta-hexosaminidase a, pseudodeficiency of

MedGen UID:
934859
Concept ID:
C4310892
Disease or Syndrome
Synonym: BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF
 
OMIM®: 606869

Professional guidelines

PubMed

Kaback MM
Eur J Pediatr 2000 Dec;159 Suppl 3:S192-5. doi: 10.1007/pl00014401. PMID: 11216898

Recent clinical studies

Etiology

Cecchi AC, Vengoechea ES, Kaseniit KE, Hardy MW, Kiger LA, Mehta N, Haque IS, Moyer K, Page PZ, Muzzey D, Grinzaid KA
Mol Genet Genomic Med 2019 Aug;7(8):e836. Epub 2019 Jul 10 doi: 10.1002/mgg3.836. PMID: 31293106Free PMC Article
Olkhovych NV, Gorovenko NG
Ukr Biochem J 2016 Sep-Oct;88(5):96-106. doi: 10.15407/ubj88.05.096. PMID: 29235819
Kaback MM
Eur J Pediatr 2000 Dec;159 Suppl 3:S192-5. doi: 10.1007/pl00014401. PMID: 11216898
Prence EM, Jerome CA, Triggs-Raine BL, Natowicz MR
J Med Screen 1997;4(3):133-6. doi: 10.1177/096914139700400304. PMID: 9368869
van Bael M, Natowicz MR, Tomczak J, Grebner EE, Prence EM
J Med Genet 1996 Oct;33(10):829-32. doi: 10.1136/jmg.33.10.829. PMID: 8933335Free PMC Article

Diagnosis

Olkhovych NV, Gorovenko NG
Ukr Biochem J 2016 Sep-Oct;88(5):96-106. doi: 10.15407/ubj88.05.096. PMID: 29235819
Park NJ, Morgan C, Sharma R, Li Y, Lobo RM, Redman JB, Salazar D, Sun W, Neidich JA, Strom CM
Pediatr Res 2010 Feb;67(2):217-20. doi: 10.1203/PDR.0b013e3181c6e318. PMID: 19858779
Sheth J, Patel P, Sheth F, Shah R
Indian Pediatr 2004 Mar;41(3):260-5. PMID: 15064514
Cao Z, Petroulakis E, Salo T, Triggs-Raine B
J Biol Chem 1997 Jun 6;272(23):14975-82. doi: 10.1074/jbc.272.23.14975. PMID: 9169471
Mules EH, Hayflick S, Dowling CE, Kelly TE, Akerman BR, Gravel RA, Thomas GH
Hum Mutat 1992;1(4):298-302. doi: 10.1002/humu.1380010406. PMID: 1301937

Prognosis

Cecchi AC, Vengoechea ES, Kaseniit KE, Hardy MW, Kiger LA, Mehta N, Haque IS, Moyer K, Page PZ, Muzzey D, Grinzaid KA
Mol Genet Genomic Med 2019 Aug;7(8):e836. Epub 2019 Jul 10 doi: 10.1002/mgg3.836. PMID: 31293106Free PMC Article
Park NJ, Morgan C, Sharma R, Li Y, Lobo RM, Redman JB, Salazar D, Sun W, Neidich JA, Strom CM
Pediatr Res 2010 Feb;67(2):217-20. doi: 10.1203/PDR.0b013e3181c6e318. PMID: 19858779
McGinniss MJ, Brown DH, Fulwiler A, Marten M, Lim-Steele JS, Kaback MM
Genet Med 2002 May-Jun;4(3):158-61. doi: 10.1097/00125817-200205000-00010. PMID: 12180151
Leinekugel P, Michel S, Conzelmann E, Sandhoff K
Hum Genet 1992 Mar;88(5):513-23. doi: 10.1007/BF00219337. PMID: 1348043

Clinical prediction guides

Cecchi AC, Vengoechea ES, Kaseniit KE, Hardy MW, Kiger LA, Mehta N, Haque IS, Moyer K, Page PZ, Muzzey D, Grinzaid KA
Mol Genet Genomic Med 2019 Aug;7(8):e836. Epub 2019 Jul 10 doi: 10.1002/mgg3.836. PMID: 31293106Free PMC Article
Park NJ, Morgan C, Sharma R, Li Y, Lobo RM, Redman JB, Salazar D, Sun W, Neidich JA, Strom CM
Pediatr Res 2010 Feb;67(2):217-20. doi: 10.1203/PDR.0b013e3181c6e318. PMID: 19858779
Sheth J, Patel P, Sheth F, Shah R
Indian Pediatr 2004 Mar;41(3):260-5. PMID: 15064514
Leinekugel P, Michel S, Conzelmann E, Sandhoff K
Hum Genet 1992 Mar;88(5):513-23. doi: 10.1007/BF00219337. PMID: 1348043
Zlotogora J, Bach G
Am J Med Genet 1983 Jan;14(1):73-80. doi: 10.1002/ajmg.1320140112. PMID: 6131608

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