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Phenylketonuria

The Lancet (British edition), 2010-10, Vol.376 (9750), p.1417-1427

2010

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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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Revising the Psychiatric Phenotype of Homocystinuria

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

2019

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Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study

The Lancet (British edition), 2007-08, Vol.370 (9586), p.504-510

2007

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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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The hypergonadotropic hypogonadism conundrum of classic galactosemia

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

2023

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Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study

Molecular genetics and metabolism, 2019-12, Vol.128 (4), p.415-421

2019

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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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Metabolomic changes demonstrate reduced bioavailability of tyrosine and altered metabolism of tryptophan via the kynurenine pathway with ingestion of medical foods in phenylketonuria

Molecular genetics and metabolism, 2017-06, Vol.121 (2), p.96-103

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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Congenital heart disease in maternal PKU

Molecular genetics and metabolism, 2012-12, Vol.107 (4), p.648-649

Levy, Harvey L.

2012

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Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria

Molecular genetics and metabolism, 2015-01, Vol.114 (1), p.25-28

2015

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Is Melatonin Synthesis a New Biomarker for the Pathogenesis and Treatment of Phenylketonuria?

The Journal of pediatrics, 2013-05, Vol.162 (5), p.893-894

2013

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Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening

Molecular genetics and metabolism, 2010-09, Vol.101 (1), p.33-39

2010

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Fetal fatty acid oxidation defects and maternal liver disease in pregnancy

Obstetrics and gynecology (New York. 1953), 2006-01, Vol.107 (1), p.115-120

2006

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Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress

JAMA : the journal of the American Medical Association, 2003-11, Vol.290 (19), p.2564

2003

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Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation

JPEN. Journal of parenteral and enteral nutrition, 2015-09, Vol.39 (7), p.875-879

2015

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Historical background for the maternal PKU syndrome

Pediatrics (Evanston), 2003-12, Vol.112 (6 Pt 2), p.1516

Levy, Harvey L

2003

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Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)

Molecular genetics and metabolism, 2018-05, Vol.124 (1), p.27-38

2018

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GENETIC SCREENING OF NEWBORNS

Annual review of genomics and human genetics, 2000-01, Vol.1 (1), p.139-177

2000

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Brief Report: Predictors of Parenting Stress Among Parents of Children With Biochemical Genetic Disorders

Journal of pediatric psychology, 2004-10, Vol.29 (7), p.565-570

2004

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Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap

Molecular genetics and metabolism, 2003-05, Vol.79 (1), p.6-16

2003

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Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial

JAMA pediatrics, 2021-11, Vol.175 (11), p.1132

2021

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Krabbe Disease: Severe Neonatal Presentation With a Family History of Multiple Sclerosis

Journal of child neurology, 2005-10, Vol.20 (10), p.826-828

2005

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Phenylketonuria

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

Revising the Psychiatric Phenotype of Homocystinuria

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study

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

The hypergonadotropic hypogonadism conundrum of classic galactosemia

Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study

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

Metabolomic changes demonstrate reduced bioavailability of tyrosine and altered metabolism of tryptophan via the kynurenine pathway with ingestion of medical foods in phenylketonuria

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

Congenital heart disease in maternal PKU

Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria

Is Melatonin Synthesis a New Biomarker for the Pathogenesis and Treatment of Phenylketonuria?

Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening

Fetal fatty acid oxidation defects and maternal liver disease in pregnancy

Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress

Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation

Historical background for the maternal PKU syndrome

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project

Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)

GENETIC SCREENING OF NEWBORNS

Brief Report: Predictors of Parenting Stress Among Parents of Children With Biochemical Genetic Disorders

Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap

Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial

Krabbe Disease: Severe Neonatal Presentation With a Family History of Multiple Sclerosis

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