Congenital Myasthenic Syndrome With Episodic Apnea

Pediatric Neurology

Volumn 41, Issue 1, 2009, Pages 42-45

  Mallory, Leah A ^a   Shaw, James G ^a   Burgess, Stephanie L ^a   Estrella, Elicia ^a   Nurko, Samuel ^a   Burpee, Tyler M ^a   Agus, Michael S ^a   Darras, Basil T ^b   Kunkel, Louis M ^a   Kang, Peter B ^a,b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CHOLINE ACETYLTRANSFERASE; EDROPHONIUM; LORAZEPAM; METHIONINE; MIDAZOLAM; PROTON PUMP INHIBITOR; PYRIDOSTIGMINE; THYROXINE;

APNEA; ARTICLE; ARTIFICIAL VENTILATION; CASE REPORT; CHILD; CHOLINE ACETYLTRANSFERASE DEFICIENCY; CONGENITAL MYASTHENIC SYNDROME; DRUG EFFICACY; ENDOTRACHEAL INTUBATION; ENZYME DEFICIENCY; FEMALE; GASTROESOPHAGEAL REFLUX; GASTROTOMY; GENE MUTATION; HETEROZYGOSITY; HUMAN; MUTATIONAL ANALYSIS; NERVE STIMULATION; NUCLEAR MAGNETIC RESONANCE IMAGING; POSITIVE END EXPIRATORY PRESSURE; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; STOMACH FUNDOPLICATION; THERAPY EFFECT; TREATMENT OUTCOME; TREATMENT RESPONSE;

AMINO ACID SEQUENCE; APNEA; BLEPHAROPTOSIS; CHOLINE O-ACETYLTRANSFERASE; CHOLINESTERASE INHIBITORS; CONSERVED SEQUENCE; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; HYPNOTICS AND SEDATIVES; INFANT; MIDAZOLAM; MOLECULAR SEQUENCE DATA; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; PEDIGREE; PYRIDOSTIGMINE BROMIDE; RESPIRATION; TREATMENT OUTCOME;

EID: 66349121900     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2009.02.017     Document Type: Article

References (8)

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