221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.

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Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel.Medium chain acyl-CoA dehydrogenase deficiency in a premature infant.

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221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.

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221 newborn-screened neonates ...... s of Metabolism Collaborative.

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Barbara K Burton

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Cynthia A Cameron

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Georgianne L Arnold

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Inborn Errors of Metabolism Collaborative

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Jerry Vockley

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Kristi Bentler

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Mathew J Edick

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Sally J Hiner

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Sara A Elsbecker

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Shaohui Zhai

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P2860

Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that res

Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support

Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants.

Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions

A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns.

Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.

Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency.

A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).

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10.1016/J.YMGME.2016.07.002

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221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.

about

P2860

P2860

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.

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