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Is More Effective Newborn Screening for Homocystinuria on the Horizon?

Clinical chemistry (Baltimore, Md.), 2023-04, Vol.69 (5), p.433-434

2023

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Robert Guthrie and the Trials and Tribulations of Newborn Screening

International journal of neonatal screening, 2021-01, Vol.7 (1), p.5

Levy, Harvey L

2021

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Early Development of Newborn Screening for HCU and Current Challenges

International journal of neonatal screening, 2021-10, Vol.7 (4), p.67

Levy, Harvey L.

2021

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In memoriam: Charles Robert Scriver, CM, CC, GOQ, FRS, FRSC (1930–2023)

Journal of inherited metabolic disease, 2023-07, Vol.46 (4), p.756-757

2023

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Newborn Screening of Lysosomal Storage Disorders

Clinical chemistry (Baltimore, Md.), 2010-07, Vol.56 (7), p.1071-1079

2010

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Ethical and Psychosocial Implications of Genomic Newborn Screening

International journal of neonatal screening, 2021-01, Vol.7 (1), p.2

Levy, Harvey L

2021

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Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial

The American journal of clinical nutrition, 2016-08, Vol.104 (2), p.334-345

2016

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The BabySeq project: implementing genomic sequencing in newborns

BMC pediatrics, 2018-07, Vol.18 (1), p.225-225, Article 225

2018

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Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project

Genetics in medicine, 2021-07, Vol.23 (7), p.1372-1375

2021

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Revising the Psychiatric Phenotype of Homocystinuria

Genetics in medicine, 2019-08, Vol.21 (8), p.1827-1831

2019

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Past as Prologue: Predicting Potential Psychosocial-Ethical Burdens of Positive Newborn Screens as Conditions Propagate

International journal of neonatal screening, 2024-02, Vol.10 (1), p.12

2024

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Metabolomic Markers of Essential Fatty Acids, Carnitine, and Cholesterol Metabolism in Adults and Adolescents with Phenylketonuria

The Journal of nutrition, 2018-02, Vol.148 (2), p.194-201

2018

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Pancreatic involvement in patients with inborn errors of metabolism

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.37-37, Article 37

2021

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The hypergonadotropic hypogonadism conundrum of classic galactosemia

Human reproduction update, 2023-03, Vol.29 (2), p.246-258

2023

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Long-term outcome of expanded newborn screening at Boston children’s hospital: benefits and challenges in defining true disease

Journal of inherited metabolic disease, 2017-03, Vol.40 (2), p.209-218

2017

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Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project

Genetics in medicine, 2019-03, Vol.21 (3), p.622-630

2019

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A Life in Newborn Screening

International journal of neonatal screening, 2016-12, Vol.2 (4), p.14

Levy, Harvey

2016

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Confounding factors in identification of disease-resilient individuals

Nature biotechnology, 2016-11, Vol.34 (11), p.1103-1104

2016

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Newborn screening conditions: What we know, what we do not know, and how we will know it

Genetics in medicine, 2010-12, Vol.12 (12 Suppl), p.S213-S214

Levy, Harvey L.

2010

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Newborn screening: the genomic challenge

Molecular genetics & genomic medicine, 2014-03, Vol.2 (2), p.81-84

Levy, Harvey L.

2014

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Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia

Pediatric emergency care, 2017-02, Vol.33 (2), p.142-146

2017

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Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman

JIMD reports, 2023-09, Vol.64 (5), p.312-316

2023

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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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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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Acute Illness Protocol for Maple Syrup Urine Disease

Pediatric emergency care, 2018-01, Vol.34 (1), p.64-67

2018

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Is More Effective Newborn Screening for Homocystinuria on the Horizon?

Robert Guthrie and the Trials and Tribulations of Newborn Screening

Early Development of Newborn Screening for HCU and Current Challenges

In memoriam: Charles Robert Scriver, CM, CC, GOQ, FRS, FRSC (1930–2023)

Newborn Screening of Lysosomal Storage Disorders

Ethical and Psychosocial Implications of Genomic Newborn Screening

Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial

The BabySeq project: implementing genomic sequencing in newborns

Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project

Revising the Psychiatric Phenotype of Homocystinuria

Past as Prologue: Predicting Potential Psychosocial-Ethical Burdens of Positive Newborn Screens as Conditions Propagate

Metabolomic Markers of Essential Fatty Acids, Carnitine, and Cholesterol Metabolism in Adults and Adolescents with Phenylketonuria

Pancreatic involvement in patients with inborn errors of metabolism

The hypergonadotropic hypogonadism conundrum of classic galactosemia

Long-term outcome of expanded newborn screening at Boston children’s hospital: benefits and challenges in defining true disease

Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project

A Life in Newborn Screening

Confounding factors in identification of disease-resilient individuals

Newborn screening conditions: What we know, what we do not know, and how we will know it

Newborn screening: the genomic challenge

Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia

Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman

First 1.5 years of pegvaliase clinic: Experiences and outcomes

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

Acute Illness Protocol for Maple Syrup Urine Disease

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