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Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

American journal of human genetics, 2021-08, Vol.108 (8), p.1450-1465

2021

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Quality improvement: The tools we need to improve care for patients with inborn errors of metabolism

Molecular genetics and metabolism, 2020-01, Vol.129 (1), p.1-2

Kritzer, Amy

2020

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Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients

Molecular genetics and metabolism reports, 2019-12, Vol.21, p.100530, Article 100530

2019

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First 1.5 years of pegvaliase clinic: Experiences and outcomes

Molecular genetics and metabolism reports, 2020-09, Vol.24, p.100603-100603, Article 100603

2020

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Reinstitution of pegvaliase therapy during lactation

Molecular genetics and metabolism reports, 2022-12, Vol.33, p.100938, Article 100938

2022

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Use of skimmed breast milk for an infant with a long‐chain fatty acid oxidation disorder: A novel therapeutic intervention

JIMD reports, 2020-09, Vol.55 (1), p.44-50

2020

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Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report

Molecular genetics and metabolism reports, 2020-03, Vol.22, p.100555, Article 100555

2020

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P001: Single center experience with the Massachusetts State Newborn Screening Pilot Program for mucopolysaccharidosis type I, Pompe disease and X-linked adrenoleukodystrophy

Genetics in Medicine Open, 2023, Vol.1 (1), p.100011, Article 100011

2023

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P041: Real-world major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States

Genetics in Medicine Open, 2023, Vol.1 (1), p.100051, Article 100051

2023

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Pegvaliase treatment for adolescents with phenylketonuria: Clinical experience and discontinuation patterns

Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108270, Article 108270

2024

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eP156 - Standard operating procedure for genetic and metabolic consults for possible non-accidental trauma

Molecular genetics and metabolism, 2021-04, Vol.132, p.S103-S104

2021

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Standard operating procedure for genetic and metabolic consults for possible non-accidental trauma

Molecular genetics and metabolism, 2021-04, Vol.132, p.S103-S104

2021

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Standardizing genetic and metabolic consults for non-accidental trauma at a large pediatric academic center

Child abuse & neglect, 2022-03, Vol.125, p.105480-105480, Article 105480

2022

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A 4-Month-Old With Jaundice, Lethargy, and Emesis

Pediatrics (Evanston), 2024-10, Vol.154 (4), p.1

2024

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eP516 - Patterns of healthcare utilization in a pediatric genetic cohort

Molecular genetics and metabolism, 2021-04, Vol.132, p.S333-S334

2021

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Patterns of healthcare utilization in a pediatric genetic cohort

Molecular genetics and metabolism, 2021-04, Vol.132, p.S333-S334

2021

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Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes

Pediatric research, 2023-01, Vol.93 (1), p.110-117

2023

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Ethical and psycho-social implications of mucopolysaccharidosis type I identified by newborn screening in the complex care setting

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S96-S97

2020

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A novel nonsense variant in the NFE2L1 transcription factor in a patient with developmental delay, hypotonia, genital anomalies, and failure to thrive

Human mutation, 2022-04, Vol.43 (4), p.471-476

2022

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OP060: Rare diseases, common barriers: Disparities in clinical genetics outcomes

Genetics in medicine, 2022-03, Vol.24 (3), p.S386-S386

2022

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eP495: Introduction to Odyssey: Real-world rare disease data collection program for patients with long-chain fatty acid oxidation disorders in the US

Genetics in medicine, 2022-03, Vol.24 (3), p.S315-S315

2022

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Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD Odyssey program

Molecular genetics and metabolism, 2024-05, Vol.142 (1), p.108350-108350, Article 108350

2024

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Early initiation of enzyme replacement therapy in pediatric Fabry disease

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S25-S25

2018

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Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Nature genetics, 2021-07, Vol.53 (7), p.1006-1021

2021

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Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

Quality improvement: The tools we need to improve care for patients with inborn errors of metabolism

Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients

First 1.5 years of pegvaliase clinic: Experiences and outcomes

Reinstitution of pegvaliase therapy during lactation

Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study

Use of skimmed breast milk for an infant with a long‐chain fatty acid oxidation disorder: A novel therapeutic intervention

Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report

P001: Single center experience with the Massachusetts State Newborn Screening Pilot Program for mucopolysaccharidosis type I, Pompe disease and X-linked adrenoleukodystrophy

P041: Real-world major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States

Pegvaliase treatment for adolescents with phenylketonuria: Clinical experience and discontinuation patterns

eP156 - Standard operating procedure for genetic and metabolic consults for possible non-accidental trauma

Standard operating procedure for genetic and metabolic consults for possible non-accidental trauma

Standardizing genetic and metabolic consults for non-accidental trauma at a large pediatric academic center

A 4-Month-Old With Jaundice, Lethargy, and Emesis

eP516 - Patterns of healthcare utilization in a pediatric genetic cohort

Patterns of healthcare utilization in a pediatric genetic cohort

Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes

Ethical and psycho-social implications of mucopolysaccharidosis type I identified by newborn screening in the complex care setting

A novel nonsense variant in the NFE2L1 transcription factor in a patient with developmental delay, hypotonia, genital anomalies, and failure to thrive

OP060: Rare diseases, common barriers: Disparities in clinical genetics outcomes

eP495: Introduction to Odyssey: Real-world rare disease data collection program for patients with long-chain fatty acid oxidation disorders in the US

Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD Odyssey program

Early initiation of enzyme replacement therapy in pediatric Fabry disease

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

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