Titlebook: JIMD Reports - Case and Research Reports, 2012/5; Johannes Zschocke,K Michael Gibson,Verena Peters Book 2013 SSIEM and Springer-Verlag Ber

泛滥

Unexplained Hypoglycemia During Continuous Nocturnal Gastric Drip-Feeding in a Patient with Glycogec episodes during continuous nocturnal gastric drip-feeding (CNGDF) administered by nasogastric tube. The episodes of hypoglycemia were not related to pump failure or human errors or wrong position of the tube in the gastrointestinal tract. Hyperinsulinism was also considered in this patient but it

音的强弱

消毒

Orthotopic Liver Transplantation in an Adult with Cholesterol Ester Storage Disease, acid lipase, manifestations of which include chronic liver disease and early atherosclerosis. Although normally presenting in childhood, severity is variable and the condition can occasionally remain undetected until middle age. Typical presentation is with asymptomatic hepatosplenomegaly and hyper

Panther

Inheritance of the m.3243A>G mutation,hild relations and 82 intersibling relations to investigate its transmission. We found a significant correlation between mother and child heteroplasmy levels (. = 0.679, . < 0.001). In mothers with a heteroplasmy level of below 25% we found 30% offspring without detectable mutation, while in mothers

Adrenal-Glands

Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Foly reduced their agalsidase beta dose, and many of these switched to agalsidase alfa (Replagal Shire HGT). The clinical consequences of this period of drug shortage need to be further evaluated. A gradual increase of agalsidase beta supply is now expected. This implies that patients could resume or e

CRANK

,-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period,senting with failure to thrive, hypotonia, pancytopaenia, HUS symptoms (microangiopathic haemolytic anaemia and thrombocytopaenia with signs of renal involvement) and fatal evolution. An underlying cobalamin disorder was diagnosed after a bone marrow examination revealed megaloblastic changes associ