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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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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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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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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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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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Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12

Molecular genetics and metabolism, 2006-06, Vol.88 (2), p.138-145

2006

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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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Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

Genetics in medicine, 2019-08, Vol.21 (8), p.1851-1867

2019

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5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics

Molecular genetics and metabolism, 2020-03, Vol.129 (3), p.177-185

2020

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Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome

Pediatrics (Evanston), 2003-12, Vol.112 (6 Pt 2), p.1530

2003

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Challenging the Current Recommendations for Carrier Testing in Children

Pediatrics (Evanston), 2019-01, Vol.143 (Suppl 1), p.S27-S32

2019

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Tyrosine supplementation in phenylketonuria: Diurnal blood tyrosine levels and presumptive brain influx of tyrosine and other large neutral amino acids

The Journal of pediatrics, 2001-09, Vol.139 (3), p.421-427

2001

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Cognitive and behavioral characterization of 16p11.2 deletion syndrome

Journal of developmental and behavioral pediatrics, 2010-10, Vol.31 (8), p.649-657

2010

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Long-term safety and efficacy of sapropterin: The PKUDOS registry experience

Molecular genetics and metabolism, 2015-04, Vol.114 (4), p.557-563

2015

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Maternal histidinaemia: Pregnancies and offspring outcomes

Journal of inherited metabolic disease, 2004-01, Vol.27 (2), p.197-204

2004

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The Maternal Phenylketonuria International Study: 1984-2002

Pediatrics (Evanston), 2003-12, Vol.112 (6 Pt 2), p.1523

2003

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Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus

The New England journal of medicine, 1983-11, Vol.309 (21), p.1269-1274

1983

Volltextzugriff (PDF)

Atypical Nonketotic Hyperglycinemia With Normal Cerebrospinal Fluid to Plasma Glycine Ratio

Journal of child neurology, 1999-07, Vol.14 (7), p.464-467

1999

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Diagnostic guidelines for newborns who screen positive in newborn screening

Genetics in medicine, 2010-12, Vol.12 (12 Suppl), p.S251-S255

2010

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Methionine adenosyltransferase I/III deficiency : Novel mutations and clinical variations

American journal of human genetics, 2000-02, Vol.66 (2), p.347-355

2000

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The International Study of Pregnancy Outcome in Women with Maternal Phenylketonuria: Report of a 12-year study

American journal of obstetrics and gynecology, 2000-02, Vol.182 (2), p.326-333

2000

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Age- and gender-dependent obesity in individuals with 16p11.2 deletion

Journal of genetics and genomics, 2011-09, Vol.38 (9), p.403-409

2011

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Benign methylmalonic aciduria

The New England journal of medicine, 1984-10, Vol.311 (16), p.1015-1018

1984

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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

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

Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria

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

Historical background for the maternal PKU syndrome

Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12

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

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics

Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study

Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome

Challenging the Current Recommendations for Carrier Testing in Children

Tyrosine supplementation in phenylketonuria: Diurnal blood tyrosine levels and presumptive brain influx of tyrosine and other large neutral amino acids

Cognitive and behavioral characterization of 16p11.2 deletion syndrome

Long-term safety and efficacy of sapropterin: The PKUDOS registry experience

Maternal histidinaemia: Pregnancies and offspring outcomes

The Maternal Phenylketonuria International Study: 1984-2002

Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus

Atypical Nonketotic Hyperglycinemia With Normal Cerebrospinal Fluid to Plasma Glycine Ratio

Diagnostic guidelines for newborns who screen positive in newborn screening

Methionine adenosyltransferase I/III deficiency : Novel mutations and clinical variations

The International Study of Pregnancy Outcome in Women with Maternal Phenylketonuria: Report of a 12-year study

Age- and gender-dependent obesity in individuals with 16p11.2 deletion

Benign methylmalonic aciduria

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