Infantile phosphofructokinase deficiency with arthrogryposis: Clinical benefit of a ketogenic diet

Journal of Pediatrics

Volumn 131, Issue 6, 1997, Pages 932-934

  Swoboda, K J ^a   Specht, L ^a   Jones, H R ^a   Shapiro, F ^a   DiMauro, S ^a   Korson, M ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

6 PHOSPHOFRUCTOKINASE;

ARTHROGRYPOSIS; ARTICLE; CASE REPORT; DIET SUPPLEMENTATION; DIET THERAPY; ENZYME DEFICIENCY; HUMAN; KETOACIDOSIS; MALE; MYOPATHY; NEWBORN; PRIORITY JOURNAL;

EID: 0031444648     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(97)70048-9     Document Type: Article

References (10)

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2. MJ Danon D Stirling JR Manaligod LH Schliselfeld Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase Neurology 31 1981 1303 1307
3. P Guibaud H Carrier M Mathieu Observation familiale destrophie musculaire congenitale par deficit en phosphofructokinase Arch Fr Pediatr 35 1978 1105 1115
4. O Pastoris M Dossena L Vercesi Muscle phosphofructokinase deficiency in a myopathic child with severe mental retardation and aplasia of cerebellar vermis Childs Nerv Syst 8 1992 237 241
5. S Servidei E Bonilla RG Diedrich Fatal infantile form of muscle phosphofructokinase deficiency Neurology 36 1986 1465 1470
6. RB Layzer LP Rowland HM Ranney Muscle phosphofructokinase deficiency Arch Neurol 17 1967 512 523
7. S Servidei L Metlay J Chodosh S DiMauro Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency J Pediatr 113 1988 82 85
8. E Beutler Red cell metabolism: a manual of biochemical methods 1984 Grune & Stratton New York
9. GA Dunaway TP Kasten T Sebo R Trapp Analysis of the phosphofructokinase subunits and isoenzymes in human tissues Biochem J 251 1988 677 683
10. RG Haller SF Lewis Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency N Engl J Med 324 1991 364 369