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UnknownA potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency.
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S-EPMC2828550 | biostudies-literature
UnknownHome-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study.
Not available
S-EPMC10169363 | biostudies-literature
UnknownPalliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care.
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S-EPMC12552833 | biostudies-literature
UnknownThe 1-13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes.
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S-EPMC7317391 | biostudies-literature
UnknownMegalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene.
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S-EPMC9641170 | biostudies-literature
UnknownWeb-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
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S-EPMC9943747 | biostudies-literature
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