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Clinical perspectives: Treating spinal muscular atrophy

Molecular therapy, 2024-08, Vol.32 (8), p.2489-2504

2024

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Genetic Testing and Counseling in Metabolic Liver Disease: An Interactive Lecture for Medical Students

MedEdPORTAL, 2020-10, Vol.16, p.10996-10996

2020

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Challenges in management of late-onset Pompe disease (LOPD) identified through Indiana newborn screening

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107958, Article 107958

2024

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Palynziq clinic: One year and 43 patients later

Molecular genetics and metabolism, 2021-07, Vol.133 (3), p.250-256

2021

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eP026: Newborn screening for Pompe disease: The Indiana experience

Genetics in medicine, 2022-03, Vol.24 (3), p.S17-S18

2022

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Newborn screening for lysosomal disorders: Three years of experience in Indiana

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.108029, Article 108029

2024

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Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health

Journal of community genetics, 2023-12, Vol.14 (6), p.627-638

2023

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P031: Late onset Pompe disease diagnoses missed by standard newborn screening procedure: The Indiana experience

Genetics in Medicine Open, 2024, Vol.2, p.100908, Article 100908

2024

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Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency

JIMD Reports, Volume 45, 2019, Vol.45, p.83-87

2019

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IS IT TIME TO MOVE BEYOND ACYLCARNITINE PROFILES? LESSONS FROM THE CLINICAL APPLICATION OF A HIGH-DEFINITION LC-MS/MS ACYLCARNITINE METHOD

Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.284-284

2022

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OP006: Is it time to move beyond acylcarnitine profiles? Lessons from the clinical application of a high-definition LC-MS/MS acylcarnitine method

Genetics in medicine, 2022-03, Vol.24 (3), p.S336-S337

2022

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Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders

Molecular genetics and metabolism, 2023-11, Vol.140 (3), p.107680-107680, Article 107680

2023

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Clinical perspectives: Treating spinal muscular atrophy

Genetic Testing and Counseling in Metabolic Liver Disease: An Interactive Lecture for Medical Students

Challenges in management of late-onset Pompe disease (LOPD) identified through Indiana newborn screening

Palynziq clinic: One year and 43 patients later

eP026: Newborn screening for Pompe disease: The Indiana experience

Newborn screening for lysosomal disorders: Three years of experience in Indiana

Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health

P031: Late onset Pompe disease diagnoses missed by standard newborn screening procedure: The Indiana experience

Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency

IS IT TIME TO MOVE BEYOND ACYLCARNITINE PROFILES? LESSONS FROM THE CLINICAL APPLICATION OF A HIGH-DEFINITION LC-MS/MS ACYLCARNITINE METHOD

OP006: Is it time to move beyond acylcarnitine profiles? Lessons from the clinical application of a high-definition LC-MS/MS acylcarnitine method

Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders

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