Titlebook: JIMD Reports, Volume 36; Eva Morava,Matthias Baumgartner,Verena Peters Book 2017 Society for the Study of Inborn Errors of Metabolism (SSI

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False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate lysis of G6PD enzyme in red blood cells showed a severe deficiency and a deletion in .. Soy-formula, the standard treatment for galactosemia, has been reported to trigger hemolysis in G6PD deficient patients. G6PD and phosphoglucomutase-1 deficiencies should be considered when confirmatory tests are

accomplishment

Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approtivities lying, standing or being dynamically active. Measuring physical activity during the whole weekend was practically feasible in all participants. We found good face validity by visually correlating the validation videos and activity diaries to the accelerometer data-graphs. Patients with mito

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Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with d for further examination at the Center for Inherited Metabolic Diseases where the diagnosis was excluded. Thus, all included patients were negative for both MPS I, II and VI...: Though our sample size is relatively small, results indicate that MPS is not prevalent in a cohort of adult patients with

GEM

Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?eems to result in a higher detection rate than the current 2–3?days...: The clinical status at birth in infants with PCD and infants born to mothers with PCD does not differ compared to control infants. Screening algorithms for PCD should focus on fC0, and blood samples should be taken when the mate

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The Spectrum of Niemann-Pick Type C Disease in Greece,cholesteryl ester formation was severely reduced in 4/7 and significantly reduced in 3/7 patients studied. Increased chitotriosidase activity was observed in 9/12 patients. Mutation analysis in 11 unrelated patients identified 12 different mutations in the . gene: eight previously described p.E1089K

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NAG

A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguinereport of a second mutation we fortify the importance of . as a novel cause of autosomal recessive nonsyndromic intellectual disability and support the premise that . is highly important for the neurodevelopment of the central nervous system...: The mutation p. 96G>R c. 286G>A in GPT2, located in a

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