Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia

Journal of Inherited Metabolic Disease

Volumn 20, Issue 4, 1997, Pages 607-608

  Muller D ^a   Santer, R ^a   Krawinkel, M ^a   Christiansen, B ^b   Schaub, J ^a  

^a UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^b Ctrl Screening U Schleswig H   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITRIOL; CALCIUM; GALACTOKINASE; GALACTOSE; GLYCOGEN; PHOSPHATE;

AMINO ACID BLOOD LEVEL; ARTICLE; CASE REPORT; CHILD; DIET RESTRICTION; DIET SUPPLEMENTATION; ENZYME ACTIVITY; FEMALE; GALACTOSEMIA; GLYCOGEN STORAGE DISEASE; HEPATOMEGALY; HUMAN; HUMAN TISSUE; LABORATORY TEST; MALE; METABOLIC DISORDER; NEWBORN SCREENING; RICKETS; SHORT STATURE;

FANCONI SYNDROME; FEMALE; GALACTOSEMIAS; GLYCOGEN STORAGE DISEASE; HUMANS; INFANT; INFANT, NEWBORN; MALE; NEONATAL SCREENING;

EID: 0030750018     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005375629820     Document Type: Article

References (4)

1. Aperia A, Bergqvist G, Linné T, Zetterström R (1981) Familial Fanconi syndrome with malabsorption and galactose intolerance, normal kinase and transferase activity. A report of two siblings. Acta Pediatr Scand 70: 527-533.
2. Fanconi G, Bickel H (1949) Die chronische Aminoacidurie (Aminosäurendiabetes oder nephrotischglukosurischer Zwergwuchs) bei der Glykogenose und der Cystinkrankheit. Helv Paediatr Acta 4: 359-396.
3. Manz F, Bickel H, Brodehl J, et al (1987) Fanconi-Bickel syndrome. Pediatr Nephrol 1: 509-518.
4. Odièvre M (1966) Glycogénose hépato-rénale avec tubulopathie complexe. Deux observations d'une entité nouvelle. Rev Inst Hépathol 16: 1-70.