Titlebook: JIMD Reports, Volume 42; Eva Morava,Matthias Baumgartner,Verena Peters Book 2018 Society for the Study of Inborn Errors of Metabolism (SSI

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The Validity of Bioelectrical Impedance Analysis to Measure Body Composition in Phenylketonuria,ting TBW (. = −0.056, adjusted .. = 0.069, . = 0.169) or FFM (. = −0.089, adjusted .. = 0.142, . = 0.083)...: Our results suggest that when compared with the criterion method, the QuadScan 4000, Bodystat. can reliably be used to predict TBW and FFM in patients with PKU. We suggest that due to the po

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Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops,e ophthalmic compounded solution. Cysteamine ophthalmic solution was prepared in the hospital pharmacy and sterilized using a candle filter. The preparations are then stored either in the freezer at −20°C or in the refrigerator at +4°C for up to 52 weeks. The amount of cysteamine hydrochloride in th

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Beneficial Effect of BH, Treatment in a 15-Year-Old Boy with Biallelic Mutations in ,oted. Additionally, gait analysis before and after treatment initiation revealed a partial normalization of his movement disorder...: Patients with hyperphenylalaninemia due to . deficiency may benefit from treatment with a BH. analog – even when introduced at a later age.

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Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review,hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. For the first time in the literature, we report on a 5-year-old girl diagnosed with a . (.) gene defect complicated by HLH. Finally, we review the literature on inborn errors of metabolism associated with HLH and compare the previously reported patie

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Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant,olic and genetic causes failed to disclose a diagnosis. Post-mortem exome sequencing allowed the identification of a pathogenic variant in . gene in the homozygous state (c.1100C > T, p.Thr367Ile) in the patient, inherited from her heterozygous parents, leading to the diagnosis of COXPD2... To the b

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A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Associ Stimulating Factor (G-CSF) use. G-CSF in GSD 1b is indicated for persistent neutropaenia, sepsis, inflammatory bowel disease and severe diarrhoea. Our patient was 12 years old at GCT diagnosis and had been treated with G-CSF from 5 years of age. He underwent therapy with interferon followed by loca