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

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Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, is more common than in the normal population... The growth velocity showed acceleration after diagnosis and the start of treatment, followed by a period of stable or decelerated growth. The majority of the patients developed overweight to a greater extent than children without LCHAD deficiency. Sev

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Fabry Disease in Latin America: Data from the Fabry Registry,rsus 39% of women, respectively. Thirty-one percent of men and 22% of women in Latin America reported experiencing a significant cardiovascular, renal, or cerebrovascular event, at a mean age of 35 ± 12.6 years in men and 44 ± 12.3 years in women. Cardiovascular events were the most common type of i

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,Questioning the Pathogenic Role of the , p.Ala143Thr “Mutation” in Fabry Disease: Implications for ft ventricular hypertrophy and kidney biopsies in two males with renal failure and microalbuminuria lacked Gb-3 deposits. The literature data on this mutation as well as data collected in the Fabry Outcome Survey (FOS) database confirm these findings. The association of renal failure, stroke, and le

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A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria,d of a 30 % reduction in Phe, 9 % of those on placebo achieved this effect, compared with 44 % of the treated group after 6 weeks. Phe tolerance and variability were improved in treated participants in studies assessing those outcomes. No comparative studies assessed long-term outcomes including cog

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Neonatal Bone Marrow Transplantation in MPS IIIA Mice,atterns of GFP. normal or MPS IIIA donor–derived cells were observed throughout the MPS IIIA mouse brain. We demonstrate that .-sulfoglucosamine sulfohydrolase (SGSH), the enzyme deficient in MPS IIIA, is produced and secreted in a manner proportional to that of other lysosomal enzymes. However, des

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Barriers to Transplantation in Adults with Inborn Errors of Metabolism,not had patients with IEM passed over on the transplant list but four of these eight had not referred a patient for transplantation. 4/13 centers had patients passed over on the transplant list and reasons cited included: (a) transplant team not comfortable with underlying disease, (b) cognitive imp

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W. Terryn M.D.,R. Vanholder,D. Hemelsoet,B. P. Leroy,W. Van Biesen,G. De Schoenmakere,B. Wuyts,K. Cl

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Mary Lou Lindegren M.D.,Shanthi Krishnaswami MBBS, M.P.H.,Tyler Reimschisel M.D.,Christopher Fonnesb

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