Titlebook: JIMD Reports - Case and Research Reports, 2012/2; SSIEM Book 2012 SSIEM and Springer-Verlag Berlin Heidelberg 2012 endocrinology.inherited

Affirm

Homocysteine Measurement in Dried Blood Spot for Neonatal Detection of Homocystinurias,ed for further metabolic investigations. We developed and validated a second-tier approach for NBS of homocystinurias by measuring the total homocysteine (tHcy) on the initial dried blood spot (DBS) samples to reduce the need for further investigation, and investigated newborn DBS homocysteine value

Grasping

Galactokinase Deficiency in a Patient with Congenital Hyperinsulinism,iency is an extremely rare form of galactosaemia, and the most frequent complication reported is cataracts. Congenital hyperinsulinism (CHI) is a cause of severe hypoglycaemia in the newborn period. Galactosaemia has not previously been reported in a neonate with concomitant CHI...: To report the fi

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外貌

,Unusual Cardiac “Masses” in a Newborn with Infantile Pompe Disease, with or without left ventricular outflow tract obstruction that typically leads to death from cardiorespiratory failure in the first year of life. Glycogen deposition tends to be uniform, and is only occasionally accompanied by patchy areas of fibrosis. Here, we present an infant identified with bi

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本土

Pregnancy During Nitisinone Treatment for Tyrosinaemia Type I: First Human Experience,cy (maternal levels 68–96 μmol/l, target level 30–60 μmol/l). Tyrosine levels during pregnancy were between 500 and 693 μmol/l (normal values 20–120 μmol/l) and phenylalanine levels between 8 and 39 μmol/l (normal values 30–100 μmol/l). Nitisinone was measurable in neonatal blood immediately after b

Nuance

盡管

conspicuous

Alkaptonuria: Leading to the Treasure in Exceptions,rrod’s errors of metabolism. Bateson’s advice to young scientists: “Treasure your exceptions!” summarizes much of the vigorous empiricism associated with the study of rare disorders..The first inborn error of metabolism to be so recognized was alkaptonuria, and it is only recently that a proper unde

圣歌

Chaperone-Like Therapy with Tetrahydrobiopterin in Clinical Trials for Phenylketonuria: Is Genotypepeutic response to daily doses of sapropterin dihydrochloride (sapropterin, KUVAN.). Responsive patients were then enrolled in two subsequent Phase III clinical trials to examine safety, ability to reduce blood Phenylalanine levels, dosage (5–20 mg/kg/day) and response, and bioavailability of saprop