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UnknownClinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report.
Not available
S-EPMC4644339 | biostudies-literature
UnknownMedicines Acceptability in Hospitalized Children: An Ongoing Need for Age-Appropriate Formulations.
Not available
S-EPMC7463451 | biostudies-literature
UnknownInsights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naive Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.
Not available
S-EPMC10487050 | biostudies-literature
UnknownMutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Not available
S-EPMC6451933 | biostudies-literature
UnknownBiallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Not available
S-EPMC6763744 | biostudies-literature
UnknownPDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Not available
S-EPMC6772106 | biostudies-literature
UnknownA homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Not available
S-EPMC10519206 | biostudies-literature
UnknownAMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Not available
S-EPMC6626132 | biostudies-literature
UnknownBi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Not available
S-EPMC10806450 | biostudies-literature
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