Patricia Hall
Research
Publications
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Newborn screening follow-up for very long-chain acyl-CoA dehydrogenase deficiency in Colorado: Working towards a standardized protocol.
Mol Genet Metab Volume: 145 Page(s): 109104
05/01/2025 Authors: Crenshaw MM; D'Annibale OM; Schechter A; Sethuraman M; Porter C; Bonn G; Wright E; Wood T; Vockley J; Hall PL -
Biochemical testing for congenital disorders of glycosylation: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med Volume: 27 Page(s): 101328
04/01/2025 Authors: Hall PL; Lam C; Wolfe L; Edmondson A; Acmg Laboratory Quality Assurance Committee -
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry.
Am J Med Genet A Volume: 197 Page(s): e63919
03/01/2025 Authors: Rabin R; Hirsch Y; Booth KTA; Hall PL; Yachelevich N; Mistry PK; Ekstein J; Pappas J -
Biomarker testing for lysosomal diseases: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med Volume: 27 Page(s): 101242
01/01/2025 Authors: Stiles AR; Donti TR; Hall PL; Wilcox WR; ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net -
Genotype and Phenotype Correlation of theTPMT8Allele in Thiopurine Metabolism.
J Mol Diagn Volume: 26 Page(s): 988 - 994
11/01/2024 Authors: Sterner RM; Hall PL; Matern D; Black JL; Moyer AM -
Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase.
Mol Genet Metab Rep Volume: 40 Page(s): 101110
09/01/2024 Authors: Turgeon C; Casas K; Flanagan R; White A; Peck D; Pino GB; Jones AS; Gavrilov D; Oglesbee D; Schultz MJ -
SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations.
Mol Genet Metab Volume: 142 Page(s): 108455
05/01/2024 Authors: Sanders K; Peck D; Bentz Pino G; Studinski Jones A; White A; Gavrilov D; Matern D; Oglesbee D; Schultz M; Tortorelli S -
Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK.
Int J Neonatal Screen Volume: 10
03/13/2024 Authors: Carling RS; Hedgethorne K; Chakrapani A; Hall PL; Flynn N; Greenfield T; Moat SJ; Ssali J; Shakespeare L; Taj N -
Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements.
Int J Neonatal Screen Volume: 10
01/28/2024 Authors: Matern D; Basheeruddin K; Klug TL; McKee G; Edge PU; Hall PL; Kurtzberg J; Orsini JJ -
Sensitivity of transferrin isoform analysis for PMM2-CDG.
Mol Genet Metab Volume: 143 Page(s): 108564
01/01/2024 Authors: Hall PL; Liedke K; Turgeon C; White A; Pino GB; Peck D; Studinski A; Gavrilov D; Tortorelli S; Oglesbee D