Acetazolamide for severe apnea in Pitt-Hopkins syndrome

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 4, 2012, Pages 932-934

  Verhulst, Stijn L ^a   De Dooy, J ^a   Ramet, J ^a   Bockaert, N ^b   Van Coster, R ^b   Ceulemans, B ^a   De Backer, W ^a  

^a ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ACETAZOLAMIDE; VALPROIC ACID;

ADULT; APNEA; CASE REPORT; CHILD; CYANOSIS; DISEASE SEVERITY; DRUG EFFICACY; DRUG WITHDRAWAL; EPILEPSY; GENE; GENE MUTATION; GENETIC DISORDER; HUMAN; HYPERVENTILATION; LETTER; MALE; OXYGEN SATURATION; PITT HOPKINS SYNDROME; PRIORITY JOURNAL; SCHOOL CHILD; SYNCOPE; TCF4 GENE; TREATMENT RESPONSE;

ACETAZOLAMIDE; APNEA; CHILD; FACIES; HUMANS; HYPERVENTILATION; INTELLECTUAL DISABILITY; MALE; YOUNG ADULT;

EID: 84859008113     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35247     Document Type: Letter

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