Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database - Concepedia

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Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database

DOI Full Paper Access

87

Citations

28

References

2016

Year

Loren Peña, Sandra C. Van Calcar, Joyanna Hansen, Mathew J. Edick, Cate Walsh Vockley, Nancy Leslie, Cynthia A. Cameron, Al‐Walid Mohsen, Susan A. Berry, Georgianne L. Arnold,

Molecular Genetics and Metabolism

Primary ImmunodeficiencyGenotype-phenotype CorrelationsAutoimmune DiseaseImmunodeficienciesGenetic EpidemiologyIbem-is DatabaseHuman PolymorphismVlcad DeficiencyPublic HealthMedicineInborn Error Of ImmunityEpidemiologyVariant InterpretationClinical Genetics

References

	Year	Citations

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