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UnknownVitamin D Status and VDR Genotype in NF1 Patients: A Case-Control Study from Southern Brazil.
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S-EPMC4487339 | biostudies-literature
UnknownPatients with asthma have reduced functional capacity and sedentary behavior.
Not available
S-EPMC9432245 | biostudies-literature
UnknownThe need for biochemical testing in beta-enolase deficiency in the genomic era.
Not available
S-EPMC6851005 | biostudies-literature
UnknownA novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.
Not available
S-EPMC6262219 | biostudies-literature
UnknownCreation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).
Not available
S-EPMC7558742 | biostudies-literature
UnknownClinical, pathological and functional characterization of riboflavin-responsive neuropathy.
Not available
S-EPMC5808726 | biostudies-literature
UnknownData from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).
Not available
S-EPMC7687836 | biostudies-literature
UnknownNatural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study.
Not available
S-EPMC9336055 | biostudies-literature
UnknownCorrection to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study.
Not available
S-EPMC10444665 | biostudies-literature
UnknownRisdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study.
Not available
S-EPMC9924181 | biostudies-literature
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