Clinical features of the patients with classic galactosemia;Klasik galaktozemili olgularda klinik özellikler

Turkiye Klinikleri Pediatri

Volumn 19, Issue 1, 2010, Pages 16-19

  Öztürk, Yeşim ^a   Erdur, Bariş ^a   Tokgöz, Yavuz ^a  

^a DOKUZ EYLUL UNIVERSITY   (Turkey)

Author keywords

Brain diseases; Galactosemias; Inborn; Jaundice; Metabolic; Neonatal

Indexed keywords

ANUS ATRESIA; ARTICLE; CATARACT; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL HEART DISEASE; DIETARY INTAKE; FEMALE; FEMORAL ARTERY; FEMORAL VEIN; FOLLOW UP; GALACTOSEMIA; HEPATOMEGALY; HIP DYSPLASIA; HUMAN; HYPOTHYROIDISM; JAUNDICE; MALE; MALNUTRITION; MEDICAL RECORD REVIEW; MOTOR RETARDATION; PERIPHERAL VASCULAR DISEASE; RETROSPECTIVE STUDY; SPEECH DISORDER; UMBILICAL HERNIA; VESICOURETERAL REFLUX; VOMITING;

EID: 77953803592     PISSN: 13000381     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

1. Bosch AM, Grootenhuis MA, Bakker HD, Heijmans HS, Wijburg FA, Last BF. Living with classical galactosemia: health-related quality of life consequences. Pediatrics 2004;113(5): e423-8.
2. Bosch AM. Classical galactosaemia revisited. J Inherit Metab Dis 2006;29(4):516-25.
3. Baykal T, Hüner G, Şarbat G, Demirkol M. [Inborn errors of metabolism: selective screening]. İstanbul Üniversitesi İstanbul Tip Fakültesi Dergisi 1998;61(2):379-83.
4. Coskun T, Erkul E, Seyrantepe V, Ozgüç M, Tokatli A, Ozalp I. Mutational analysis of Turkish galactosaemia patients. J Inherit Metab Dis 1995;18(3):368-9.
5. Waggoner DD, Buist NR, Donnell GN. Long-term prognosis in galactosemia: results of a survey of 350 cases. J Inherit Metab Dis 1990;13(6):802-18.
6. Kaufmann FR, McBride-Chang C, Manis FR, Wolff JA, Nelson MD. Cognitive functioning, neurologic status and brain imaging in classical galactosaemia. Eur J Pediatr 1995; 154(7):S2-5.
7. Cleary MA, Heptinstall LE, Wraith JE, Walter JH. Galactosemia: relationship of IQ to biochemical control and genotype. J Inherit Metab Dis 1995;18(2):151-2.
8. Shield JP, Wadsworth EJ, MacDonald A, Stephenson A, Tyfield L, Holton JB, et al. The relationship of genotype to cognitive outcome in galactosaemia. Arch Dis Child 2000; 83(3):248-50.
9. Schweitzer S, Shin Y, Jakobs C, Brodehl J. Long-term outcome in 134 patients with galactosaemia. Eur J Pediatr 1993;152(1):36-43.
10. Koch TK, Schmidt KA, Wagstaff JE, Ng WG, Packman S. Neurologic complications in galactosemia. Pediatr Neurol 1992;8(3):217-20.
11. Ridel KR, Leslie ND, Gilbert DL. An updated review of the long-term neurological effects of galactosemia. Pediatr Neurol 2005;33(3):153-61.
12. Filippi L, Pezzati M, Poggi C, Pasquini E. Vein of Galen aneurysmal malformation and galactosemia in a neonate: a previously unreported association. Paediatr Anaesth 2007;17(12): 1221-3. (Pubitemid 350059112)
13. Sodhi KS, Thapa BR, Walia A, Khandelwal N. Congenital intrahepatic porto-systemic venous shunt with galactosemia. Indian J Gastroenterol 2007;26(2):87-8. (Pubitemid 46910507)
14. Panis B, Gerver WJ, Rubio-Gozalbo ME. Growth in treated classical galactosemia patients. Eur J Pediatr 2007;166(5):443-6. (Pubitemid 46450478)
15. Hughes J, Ryan S, Lambert D, Geoghegan O, Clark A, Rogers Y, et al. Outcomes of siblings with classical galactosemia. J Pediatr 2009;154(5):721-6.