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JIMD Reports, Volume 22
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Long-term Anthropometric Development of Individuals with Inherited Metabolic Diseases Identified by Newborn Screening
Abstract: Newborn screening (NBS) for inherited metabolic diseases (IMDs) substantially shortens a patient's journey. It enables the early start of metabolic treatment which might prevent potentially lethal neonatal disease manifestations, while promoting favorable development and long-term clinical outcomes. This study aims to assess growth in screened individuals with IMDs under different dietary regimes. Anthropometric data (3585 prospective measures) of 350 screened individuals with IMDs born between 1999 and 2018 and participating in a German prospective multi-center observational study were evaluated. Overall, birth measures were within the reference ranges, suggesting unaffected prena...
The King's Advocate
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Armorel of Lyonesse
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Jane Seton; Or, The King's Advocate. A Scottish Historical Romance, In Two Volumes
Reproduction of the original. The publishing house Megali specialises in reproducing historical works in large print to make reading easier for people with impaired vision.
The Caxtons
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