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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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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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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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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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Outcome at age 4 years in offspring of women with maternal phenylketonuria: the Maternal PKU Collaborative Study

JAMA : the journal of the American Medical Association, 2000-02, Vol.283 (6), p.756

2000

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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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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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Novel mutations in the GALK1 gene in patients with galactokinase deficiency

Human mutation, 2001, Vol.17 (1), p.77-78

2001

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Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia

Human mutation, 1999, Vol.13 (4), p.286-289

1999

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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

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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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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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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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Benign methylmalonic aciduria

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

1984

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Methionine transamination in patients with homocystinuria due to cystathionine β-synthase deficiency

Metabolism, clinical and experimental, 2000-08, Vol.49 (8), p.1071-1077

2000

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Necessity of Complete Intake of Phenylalanine-free Amino Acid Mixture for Metabolic Control of Phenylketonuria

Journal of the American Dietetic Association, 1999-12, Vol.99 (12), p.1559-1563

1999

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Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene

American journal of human genetics, 1997-03, Vol.60 (3), p.540-546

1997

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Isolated persistent hypermethioninemia

American journal of human genetics, 1995-10, Vol.57 (4), p.882-892

1995

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Ketoacidotic crisis as a presentation of mild (“benign”) methylmalonic acidemia

The Journal of pediatrics, 1991-07, Vol.119 (1), p.80-84

1991

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The natural history of homocystinuria due to cystathionine beta-synthase deficiency

American journal of human genetics, 1985-01, Vol.37 (1), p.1-31

1985

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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

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

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

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

Outcome at age 4 years in offspring of women with maternal phenylketonuria: the Maternal PKU Collaborative Study

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

Challenging the Current Recommendations for Carrier Testing in Children

Cognitive and behavioral characterization of 16p11.2 deletion syndrome

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

Novel mutations in the GALK1 gene in patients with galactokinase deficiency

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia

The Maternal Phenylketonuria International Study: 1984-2002

Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus

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

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

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

Benign methylmalonic aciduria

Methionine transamination in patients with homocystinuria due to cystathionine β-synthase deficiency

Necessity of Complete Intake of Phenylalanine-free Amino Acid Mixture for Metabolic Control of Phenylketonuria

Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene

Isolated persistent hypermethioninemia

Ketoacidotic crisis as a presentation of mild (“benign”) methylmalonic acidemia

The natural history of homocystinuria due to cystathionine beta-synthase deficiency

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