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Newborn screening by tandem mass spectrometry: a new era

Clinical chemistry (Baltimore, Md.), 1998-12, Vol.44 (12), p.2401-2402

Levy, H L

1998

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Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency

Neurology, 1999-10, Vol.53 (6), p.1205

1999

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Phenylketonuria: Old Disease, New Approach to Treatment

Proceedings of the National Academy of Sciences - PNAS, 1999-03, Vol.96 (5), p.1811-1813

Levy, Harvey L.

1999

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Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry

Clinical chemistry (Baltimore, Md.), 1996-03, Vol.42 (3), p.349-355

1996

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A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin

Journal of human genetics, 2009-06, Vol.54 (6), p.335-339

2009

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Xeroderma Pigmentosum Group C Splice Mutation Associated with Autism and Hypoglycinemia

Journal of investigative dermatology, 1998-11, Vol.111 (5), p.791-796

1998

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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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Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms

Molecular genetics and metabolism, 2008-09, Vol.95 (1), p.39-45

2008

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Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry

Pediatrics (Evanston), 2001-06, Vol.107 (6), p.E103

2001

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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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Congenital heart disease in Maternal phenylketonuria: Report from the Maternal PKU Collaborative study

Pediatric research, 2001-05, Vol.49 (5), p.636-642

2001

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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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Reduction of False Negative Results in Screening of Newborns for Homocystinuria

The New England journal of medicine, 1999-11, Vol.341 (21), p.1572-1576

1999

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Hepatocellular carcinoma despite long‐term survival in chronic tyrosinaemia I

Journal of inherited metabolic disease, 2000-12, Vol.23 (8), p.791-804

2000

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Phenylalanine hydroxylase gene mutations in the United States : Report from the maternal PKU collaborative study

American journal of human genetics, 1996-07, Vol.59 (1), p.84-94

1996

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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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Reproductive fitness in maternal homocystinuria due to cystathionine β‐synthase deficiency

Journal of inherited metabolic disease, 2002-08, Vol.25 (4), p.299-314

2002

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Maternal methionine adenosyltransferase I/III deficiency: Reproductive outcomes in a woman with four pregnancies

Journal of inherited metabolic disease, 2003-01, Vol.26 (5), p.443-458

2003

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Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study

Pediatrics (Evanston), 1999-08, Vol.104 (2 Pt 1), p.258

1999

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Acceptability of a new modular protein substitute for the dietary treatment of phenylketonuria

Journal of inherited metabolic disease, 2001-11, Vol.24 (6), p.623-630

2001

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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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Newborn screening compared to clinical identification of biochemical genetic disorders

Journal of inherited metabolic disease, 2002-11, Vol.25 (7), p.599-600

2002

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Evidence for Central Nervous System Glial Cell Plasticity in Phenylketonuria

Journal of neuropathology and experimental neurology, 1996-07, Vol.55 (7), p.795-814

1996

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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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Newborn screening by tandem mass spectrometry: a new era

Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency

Phenylketonuria: Old Disease, New Approach to Treatment

Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin

Xeroderma Pigmentosum Group C Splice Mutation Associated with Autism and Hypoglycinemia

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

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms

Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry

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

Congenital heart disease in Maternal phenylketonuria: Report from the Maternal PKU Collaborative study

Isolated persistent hypermethioninemia

Reduction of False Negative Results in Screening of Newborns for Homocystinuria

Hepatocellular carcinoma despite long‐term survival in chronic tyrosinaemia I

Phenylalanine hydroxylase gene mutations in the United States : Report from the maternal PKU collaborative study

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

Reproductive fitness in maternal homocystinuria due to cystathionine β‐synthase deficiency

Maternal methionine adenosyltransferase I/III deficiency: Reproductive outcomes in a woman with four pregnancies

Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study

Acceptability of a new modular protein substitute for the dietary treatment of phenylketonuria

Maternal histidinaemia: Pregnancies and offspring outcomes

Newborn screening compared to clinical identification of biochemical genetic disorders

Evidence for Central Nervous System Glial Cell Plasticity in Phenylketonuria

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

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