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Fetal fatty acid oxidation defects and maternal liver disease in pregnancy

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

2006

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Alternative-Pathway Therapy for Hyperammonemia

The New England journal of medicine, 2007-05, Vol.356 (22), p.2321-2322

Shih, Vivian E

2007

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Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening

Pediatrics (Evanston), 2008-05, Vol.121 (5), p.e1108

2008

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Long-term follow-up of four patients affected by HHH syndrome

Clinica chimica acta, 2012-07, Vol.413 (13-14), p.1151-1155

2012

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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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Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature

Pediatrics (Evanston), 2005-09, Vol.116 (3), p.757

2005

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Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1

American journal of medical genetics. Part A, 2006-05, Vol.140A (9), p.1004-1009

2006

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Low vitamin B6 but not homocyst(e)ine is associated with increased risk of stroke and transient ischemic attack in the era of folic acid grain fortification

Stroke (1970), 2003-06, Vol.34 (6), p.e51-e54

2003

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Proton Magnetic Resonance Spectroscopy and Diffusion-Weighted Imaging in Isolated Sulfite Oxidase Deficiency

Journal of child neurology, 2006-09, Vol.21 (9), p.801-805

2006

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USE OF AMNIOTIC FLUID AMINO ACIDS IN PRENATAL TESTING FOR ARGININOSUCCINIC ACIDURIA AND CITRULLINAEMIA

Prenatal diagnosis, 1996-05, Vol.16 (5), p.419-424

1996

Volltextzugriff (PDF)

Arginase deficiency with lethal neonatal expression: Evidence for the glutamine hypothesis of cerebral edema

The Journal of pediatrics, 2003-03, Vol.142 (3), p.349-352

2003

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Pericardial effusion in primary systemic carnitine deficiency

Journal of inherited metabolic disease, 2006-08, Vol.29 (4), p.589-589

2006

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Carbamyl phosphate synthetase 1 deficiency: A destructive encephalopathy

Pediatric neurology, 2001-03, Vol.24 (3), p.193-199

2001

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Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress

Obstetrical & gynecological survey, 2004-06, Vol.59 (6), p.415-417

2004

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Tandem Mass Spectrometric Analysis for Amino, Organic, and Fatty Acid Disorders in Newborn Dried Blood Spots

Clinical chemistry (Baltimore, Md.), 2001-11, Vol.47 (11), p.1945-1955

2001

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Benign methylmalonic aciduria

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

1984

Volltextzugriff (PDF)

Sepsis due to Escherichia coli in neonates with galactosemia

The New England journal of medicine, 1977-10, Vol.297 (15), p.823

1977

Volltextzugriff (PDF)

Lysinuric protein intolerance presenting as childhood osteoporosis. Clinical and skeletal response to citrulline therapy

The New England journal of medicine, 1985-01, Vol.312 (5), p.290

1985

Volltextzugriff (PDF)

Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism

The New England journal of medicine, 1977-11, Vol.297 (19), p.1022

1977

Volltextzugriff (PDF)

Molecular basis of cystathionine β-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria

Human molecular genetics, 1993-11, Vol.2 (11), p.1857-1860

1993

Volltextzugriff (PDF)

Molecular Analysis and Prenatal Diagnosis of Human Fumarase Deficiency

Molecular genetics and metabolism, 1998-04, Vol.63 (4), p.254-262

1998

Volltextzugriff (PDF)

A simple screening test for sulfite oxidase deficiency: Detection of urinary thiosulfate by a modification of sörbo's method

Clinica chimica acta, 1979-07, Vol.95 (1), p.143-145

1979

Volltextzugriff (PDF)

Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase

DNA (New York, N.Y.), 1986-12, Vol.5 (6), p.493-501

1986

Volltextzugriff (PDF)

Cloning and Characterization of a Putative Human d-2-Hydroxyacid Dehydrogenase in Chromosome 9q

Biochemical and biophysical research communications, 2000-02, Vol.268 (2), p.298-301

2000

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Routine newborn screening for histidinemia. Clinical and biochemical results

The New England journal of medicine, 1974-12, Vol.291 (23), p.1214

1974

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Fetal fatty acid oxidation defects and maternal liver disease in pregnancy

Alternative-Pathway Therapy for Hyperammonemia

Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening

Long-term follow-up of four patients affected by HHH syndrome

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

Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature

Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1

Low vitamin B6 but not homocyst(e)ine is associated with increased risk of stroke and transient ischemic attack in the era of folic acid grain fortification

Proton Magnetic Resonance Spectroscopy and Diffusion-Weighted Imaging in Isolated Sulfite Oxidase Deficiency

USE OF AMNIOTIC FLUID AMINO ACIDS IN PRENATAL TESTING FOR ARGININOSUCCINIC ACIDURIA AND CITRULLINAEMIA

Arginase deficiency with lethal neonatal expression: Evidence for the glutamine hypothesis of cerebral edema

Pericardial effusion in primary systemic carnitine deficiency

Carbamyl phosphate synthetase 1 deficiency: A destructive encephalopathy

Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress

Tandem Mass Spectrometric Analysis for Amino, Organic, and Fatty Acid Disorders in Newborn Dried Blood Spots

Benign methylmalonic aciduria

Sepsis due to Escherichia coli in neonates with galactosemia

Lysinuric protein intolerance presenting as childhood osteoporosis. Clinical and skeletal response to citrulline therapy

Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism

Molecular basis of cystathionine β-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria

Molecular Analysis and Prenatal Diagnosis of Human Fumarase Deficiency

A simple screening test for sulfite oxidase deficiency: Detection of urinary thiosulfate by a modification of sörbo's method

Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase

Cloning and Characterization of a Putative Human d-2-Hydroxyacid Dehydrogenase in Chromosome 9q

Routine newborn screening for histidinemia. Clinical and biochemical results

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