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

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Riboflavin-Responsive Trimethylaminuria in a Patient with Homocystinuria on Betaine Therapy, was described as fish-like. Urinary trimethylamine (TMA) was measured and found to be markedly increased. DNA mutation analysis revealed homozygosity for a common allelic variant in the gene coding for the TMA oxidising enzyme FMO3. Without changing diet or betaine therapy, riboflavin was given at

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Successful Noninvasive Ventilation and Enzyme Replacement Therapy in an Adult Patient with Morbus Hzyme iduronate-2-sulfatase. Unlike enzyme replacement therapy with idursulfase in children, there is limited long-term experience in adult patients with Morbus Hunter..The case presented here describes the development of a man born in 1971 who was admitted to Hemer Lung Clinic in 2005 with severe ob

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A Rare Galactosemia Complication: Vitreous Hemorrhage,oagulation factors and evidence of liver disease are associated with coagulopathy in galactosemic infants. We report a case of a neonate with galactosemia presenting with bilateral vitreous hemorrhage (VH). During the follow-up, hemorrhage in the right eye resolved; however, it persisted in the left

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Neonatal Cholestasis as Initial Manifestation of Type 2 Gaucher Disease: A Continuum in the Spectrudegeneration and death within the first 2 years of life. Rarely it may lack the characteristic symptom-free period and initially manifest prenatally or in the neonatal period. The early course of neonatal onset classic type 2 variants is not well known, and reports of early histological changes in t

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Severe Infusion Reactions to Fabry Enzyme Replacement Therapy: Rechallenge After Tracheostomy,sponse. Infusion reactions, initially mild and easily managed, commenced during his 13th infusion, and continued over the next 3 years. Severity of reactions subsequently increased despite very slow infusion, extended prophylactic medication and attempted desensitisation, requiring regular intensive

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