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Hexosaminidase B (Paris)

MedGen UID:
865426
•Concept ID:
C4016989
•
Finding
Synonym: HEXOSAMINIDASE B (PARIS)
 
OMIM®: 606873

Recent clinical studies

Etiology

Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.
Gaignard P, Fagart J, Niemir N, Puech JP, Azouguene E, Dussau J, Caillaud C
Gene 2013 Jan 10;512(2):521-6. Epub 2012 Oct 6 doi: 10.1016/j.gene.2012.09.124. PMID: 23046579

Diagnosis

Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.
Gaignard P, Fagart J, Niemir N, Puech JP, Azouguene E, Dussau J, Caillaud C
Gene 2013 Jan 10;512(2):521-6. Epub 2012 Oct 6 doi: 10.1016/j.gene.2012.09.124. PMID: 23046579

Therapy

Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.
Gaignard P, Fagart J, Niemir N, Puech JP, Azouguene E, Dussau J, Caillaud C
Gene 2013 Jan 10;512(2):521-6. Epub 2012 Oct 6 doi: 10.1016/j.gene.2012.09.124. PMID: 23046579
Diarrhea and autonomic dysfunction in a patient with hexosaminidase B deficiency (Sandhoff disease).
Modigliani R, Lemann M, Melançon SB, Mikol J, Potier M, Salmeron M, Said G, Poitras P
Gastroenterology 1994 Mar;106(3):775-81. doi: 10.1016/0016-5085(94)90715-3. PMID: 8119549

Prognosis

Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.
Gaignard P, Fagart J, Niemir N, Puech JP, Azouguene E, Dussau J, Caillaud C
Gene 2013 Jan 10;512(2):521-6. Epub 2012 Oct 6 doi: 10.1016/j.gene.2012.09.124. PMID: 23046579

Clinical prediction guides

Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.
Gaignard P, Fagart J, Niemir N, Puech JP, Azouguene E, Dussau J, Caillaud C
Gene 2013 Jan 10;512(2):521-6. Epub 2012 Oct 6 doi: 10.1016/j.gene.2012.09.124. PMID: 23046579

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    Related information

    • ClinVar
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    • OMIM
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    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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