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Summary
PATENT DUCTUS VENOSUS
INTRAHEPATIC PORTOSYSTEMIC VENOUS SHUNT PDV
601466
OMIM = Online Medalian Inheritance of Men
very rare
autosomal recessive?
symptoms
congenital portosystemic venous shunt (PSVS)
encephalopathy
hyperammonemia
jaundice
liver involvement or dysfunction
onset, neonatal
patent ductus venosus
laboratory finding
Ammonia +€mol/lblood
Bile acids, total increasedplasma
D-Galactose increasedserum
Literature
Elmonem MA,et al.Cystinosis: a reviewOrphanet J Rare Dis110472016
Jakobs CSchweitzer S, Dorland BGalactitol in galactosemiaEur J Pediatr Suppl 21540S50-S521995
Jakobs CSchweitzer S, Dorland BGalactitol in galactosemiaEur J Pediatr Suppl 21540S50-S521995
Jakobs CSchweitzer S, Dorland BGalactitol in galactosemiaEur J Pediatr Suppl 21540S50-S521995
Schweitzer SShin Y, Jacobs C, Brodehl JLong-term outcome in 134 patients with galactosemiaEur J Pediatr152036-431993
Jakobs CSchweitzer S, Dorland BGalactitol in galactosemiaEur J Pediatr Suppl 21540S50-S521995
Emma F,et al.Nephropathic cystinosis: an international consensus documentNephrol Dial Transplant29487-942014
Quinonez SC,et al.Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiencyPediatr Neurol48167-722013