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Journals and Conferences
A Japanese girl with neonatal-onset chronic hepatitis and systemic inflammation was diagnosed with hyper-immunoglobulinemia D and periodic fever syndrome (HIDS). However, she lacked the typical HIDS features until the age of 32 months. She had compound heterozygous MVK mutations, H380R and A262P, the latter of which was novel. These findings suggest that… (More)
SummaryA case of de novo 18/21 translocation resulting in 18q trisomy was described. Based on both G-and C-bandings, the patient's karyotype was identified as 46,XX, t(18;21) (p11;q11). Her clinical feature fullfilled almost all criteria of the 18 trisomy syndrome reported.
Summary: Organic acids in plasma and urine of a patient with isovaleric acidemia were measured serially during a severe ketoacidotic attack. Urinary ketone bodies, lactic acid and 2-hydroxy-n-butyric acid changed in parallel with the plasma isovaleric acid concentration, which was correlated closely with the severity of the clinical symptoms. A 2-day lag… (More)