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Can Newborn Screening for Vitamin B 12 Deficiency be Incorporated into All Newborn Screening Programs?

The Journal of pediatrics, 2020-01, Vol.216, p.9

2020

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Can Newborn Screening for Vitamin B12 Deficiency be Incorporated into All Newborn Screening Programs?

The Journal of pediatrics, 2020-01, Vol.216, p.9-11.e1

2020

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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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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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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

Volltextzugriff (PDF)

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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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

Volltextzugriff (PDF)

The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies

Molecular genetics and metabolism, 2023-11, Vol.140 (3), p.107693-107693, Article 107693

2023

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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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A Life in Newborn Screening

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

Levy, Harvey

2016

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The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency

Molecular genetics and metabolism, 2019-04, Vol.126 (4), p.368-376

2019

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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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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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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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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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Acute Illness Protocol for Urea Cycle Disorders

Pediatric emergency care, 2018-06, Vol.34 (6), p.e115-e119

2018

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Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1

Molecular genetics and metabolism reports, 2019-03, Vol.18, p.14-18

2019

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PROBLEMS IN PRENATAL COUNSELING FOR PREGNANCIES AFFECTED WITH BENIGN HYPERPHENYLALANINEMIA

Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.283-283

2022

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O06: Insights from the first genetic evaluation of a longitudinal natural history study in classical homocystinuria (HCU)

Genetics in Medicine Open, 2023, Vol.1 (1), p.100007, Article 100007

2023

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P012: Pegtibatinase, an investigational enzyme replacement therapy for the treatment of classical homocystinuria: Latest findings from the COMPOSE phase 1/2 trial

Genetics in Medicine Open, 2024, Vol.2, p.100889, Article 100889

2024

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Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening

International journal of neonatal screening, 2021-09, Vol.7 (3), p.48

2021

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Metabolomic Insights into the Nutritional Status of Adults and Adolescents with Phenylketonuria Consuming a Low-Phenylalanine Diet in Combination with Amino Acid and Glycomacropeptide Medical Foods

Journal of nutrition and metabolism, 2017-01, Vol.2017, p.6859820-17

2017

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Phenotyping and treatment of phenylketonuria – Authors' reply

The Lancet (British edition), 2011, Vol.377 (9764), p.466-466

2011

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Dietary amino acid intakes associated with a low-phenylalanine diet combined with amino acid medical foods and glycomacropeptide medical foods and neuropsychological outcomes in subjects with phenylketonuria

Data in brief, 2017-08, Vol.13, p.377-384

2017

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Phenotypic variability in deficiency of the α subunit of succinate‐CoA ligase

JIMD reports, 2019-03, Vol.46 (1), p.63-69

2019

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Can Newborn Screening for Vitamin B 12 Deficiency be Incorporated into All Newborn Screening Programs?

Can Newborn Screening for Vitamin B12 Deficiency be Incorporated into All Newborn Screening Programs?

Early Development of Newborn Screening for HCU and Current Challenges

Robert Guthrie and the Trials and Tribulations of Newborn Screening

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

Ethical and Psychosocial Implications of Genomic Newborn Screening

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

The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies

Pancreatic involvement in patients with inborn errors of metabolism

A Life in Newborn Screening

The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency

Newborn screening: the genomic challenge

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

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

First 1.5 years of pegvaliase clinic: Experiences and outcomes

Acute Illness Protocol for Urea Cycle Disorders

Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1

PROBLEMS IN PRENATAL COUNSELING FOR PREGNANCIES AFFECTED WITH BENIGN HYPERPHENYLALANINEMIA

O06: Insights from the first genetic evaluation of a longitudinal natural history study in classical homocystinuria (HCU)

P012: Pegtibatinase, an investigational enzyme replacement therapy for the treatment of classical homocystinuria: Latest findings from the COMPOSE phase 1/2 trial

Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening

Metabolomic Insights into the Nutritional Status of Adults and Adolescents with Phenylketonuria Consuming a Low-Phenylalanine Diet in Combination with Amino Acid and Glycomacropeptide Medical Foods

Phenotyping and treatment of phenylketonuria – Authors' reply

Dietary amino acid intakes associated with a low-phenylalanine diet combined with amino acid medical foods and glycomacropeptide medical foods and neuropsychological outcomes in subjects with phenylketonuria

Phenotypic variability in deficiency of the α subunit of succinate‐CoA ligase

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