Fetal bradycardia at 28 weeks of gestation associated with cardiac glycogen phosphorylase b kinase deficiency [3]

Acta Paediatrica, International Journal of Paediatrics

Volumn 92, Issue 11, 2003, Pages 1352-1353

  Buhrer C ^a,b   Van Landeghem, F K H ^a   Felderhoff Mueser, U ^a   Stadelmann, C ^a   Obladen, M ^a  

^a HUMBOLDT UNIVERSITY   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ORCIPRENALINE; PHOSPHORYLASE KINASE;

APGAR SCORE; ARTIFICIAL VENTILATION; ASCITES; BIRTH WEIGHT; BRADYCARDIA; CAPILLARY LEAK SYNDROME; CASE REPORT; CESAREAN SECTION; CHILD DEATH; DISEASE ASSOCIATION; DISEASE COURSE; DRUG INFUSION; ELECTROCARDIOGRAM; EMERGENCY TREATMENT; ENZYME ACTIVITY; EXTUBATION; FETUS; GESTATIONAL AGE; HEART LEFT VENTRICLE; HUMAN; LETTER; LUNG EDEMA; OXYGENATION; PERICARDIAL EFFUSION; PRIORITY JOURNAL; PROTEIN DEFICIENCY; RESPIRATORY DISTRESS; WEIGHT GAIN;

BRADYCARDIA; FATAL OUTCOME; GESTATIONAL AGE; HUMANS; INFANT, NEWBORN; INFANT, PREMATURE; PHOSPHORYLASE KINASE;

EID: 0345688930     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1080/08035250310006458     Document Type: Letter

References (5)

1. Eishi Y, Takemura T, Sone R, Yamamura H, Narisawa K, Ichinohasama R, et al. Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: a new type of glycogen storage disease. Hum Pathol 1985; 16: 193-7
2. Servidei S, Metlay LA, Chodosh J, DiMauro S. Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency. J Pediatr 1988; 113: 82-5
3. Elleder M, Shin YS, Zuntova A, Vojtovic P, Chalupecky V. Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase. Virchows Arch A Pathol Anat Histopathol 1993; 423: 303-7
4. Regalado JJ, Rodriguez MM, Ferrer PL. Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency. Pediatr Cardiol 1999; 20: 304-7
5. Atkin J, Snow JWJ, Zellweger H, Rhead WJ. Fatal infantile cardiac glycogenosis without acid maltase deficiency presenting as congenital hydrops. Eur J Pediatr 1984; 142: 150.