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Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California

Molecular genetics and metabolism, 2017-11, Vol.122 (3), p.76-84

2017

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Krabbe disease: Clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards

Molecular genetics and metabolism, 2012-01, Vol.105 (1), p.126-131

2012

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Maple syrup urine disease: Further evidence that newborn screening may fail to identify variant forms

Molecular genetics and metabolism, 2010-06, Vol.100 (2), p.136-142

2010

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Birth prevalence of disorders detectable through newborn screening by race/ethnicity

Genetics in medicine, 2012-11, Vol.14 (11), p.937-945

2012

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Adenovirus detection in Guthrie cards from paediatric leukaemia cases and controls

British journal of cancer, 2008-11, Vol.99 (10), p.1668-1672

2008

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Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening

Molecular genetics and metabolism, 2011-05, Vol.103 (1), p.92-95

2011

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Extremely high phenylalanine levels in a newborn on parenteral nutrition: phenylketonuria in the neonatal intensive care unit

Journal of perinatology, 2011-07, Vol.31 (7), p.507-510

2011

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Epidemiologic Study of Down Syndrome in a Racially Diverse California Population, 1989–1991

American journal of epidemiology, 1997-01, Vol.145 (2), p.134-147

1997

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Distribution of hemoglobinopathy variants by ethnicity in a multiethnic state

Genetic epidemiology, 1996, Vol.13 (5), p.501-512

1996

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Thyroid Function and Perchlorate in Drinking Water: An Evaluation among California Newborns, 1998

Environmental health perspectives, 2006-05, Vol.114 (5), p.798-804

2006

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Impact of Expanded Newborn Screening — United States, 2006

MMWR. Morbidity and mortality weekly report, 2008-09, Vol.57 (37), p.1012-1015

2008

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The context and approach for the California newborn screening short- and long-term follow-up data system: Preliminary findings

Genetics in medicine, 2010-12, Vol.12 (Suppl 12), p.S242-S250

2010

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Changes in the epidemiology of thalassemia in North America: a new minority disease

Pediatrics (Evanston), 2005-12, Vol.116 (6), p.e818-e825

2005

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The California Prenatal Screening Program: “Options and choices” not “coercion and eugenics”

Genetics in medicine, 2011-08, Vol.13 (8), p.711-713

2011

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Prenatal ultrasound findings in affected and unaffected pregnancies that are screen-positive for trisomy 18: the California experience

Prenatal diagnosis, 2000-04, Vol.20 (4), p.293-299

2000

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Asian immigration and public health in California: thalassemia in newborns in California

Journal of pediatric hematology/oncology, 2000-11, Vol.22 (6), p.564-566

Lorey, F

2000

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82 COBALAMIN C DISEASE AND EXPANDED NEWBORN SCREENING: THE CALIFORNIA EXPERIENCE

Journal of investigative medicine, 2007-01, Vol.55 (1), p.S90

2007

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Birth Prevalence of Primary Congenital Hypothyroidism by Sex and Ethnicity

Human biology, 1992-08, Vol.64 (4), p.531-538

1992

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Diagnosis and Management of Alpha Thalassemia Disorders

Annals of the New York Academy of Sciences, 2005-01, Vol.1054 (1), p.514-515

LOREY Rapporteur, FRED

2005

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Universal screening for hemoglobinopathies using high-performance liquid chromatography: clinical results of 2.2 million screens

European journal of human genetics : EJHG, 1994, Vol.2 (4), p.262-271

1994

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Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease

Molecular genetics and metabolism, 2006-09, Vol.89 (1), p.134-138

2006

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Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hours

Clinical chemistry (Baltimore, Md.), 1998-12, Vol.44 (12), p.2405-2409

1998

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DNA Banking for Epidemiologic Studies: A Review of Current Practices

Epidemiology (Cambridge, Mass.), 2002-05, Vol.13 (3), p.246-254

2002

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Use of the phenylalanine:tyrosine ratio to test newborns for phenylketonuria in a large public health screening programme

Journal of medical screening, 2000-01, Vol.7 (3), p.131-135

2000

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The timing of demise in fetuses with trisomy 21 and trisomy 18

Prenatal diagnosis, 2005-07, Vol.25 (7), p.608-611

2005

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Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California

Krabbe disease: Clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards

Maple syrup urine disease: Further evidence that newborn screening may fail to identify variant forms

Birth prevalence of disorders detectable through newborn screening by race/ethnicity

Adenovirus detection in Guthrie cards from paediatric leukaemia cases and controls

Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening

Extremely high phenylalanine levels in a newborn on parenteral nutrition: phenylketonuria in the neonatal intensive care unit

Epidemiologic Study of Down Syndrome in a Racially Diverse California Population, 1989–1991

Distribution of hemoglobinopathy variants by ethnicity in a multiethnic state

Thyroid Function and Perchlorate in Drinking Water: An Evaluation among California Newborns, 1998

Impact of Expanded Newborn Screening — United States, 2006

The context and approach for the California newborn screening short- and long-term follow-up data system: Preliminary findings

Changes in the epidemiology of thalassemia in North America: a new minority disease

The California Prenatal Screening Program: “Options and choices” not “coercion and eugenics”

Prenatal ultrasound findings in affected and unaffected pregnancies that are screen-positive for trisomy 18: the California experience

Asian immigration and public health in California: thalassemia in newborns in California

82 COBALAMIN C DISEASE AND EXPANDED NEWBORN SCREENING: THE CALIFORNIA EXPERIENCE

Birth Prevalence of Primary Congenital Hypothyroidism by Sex and Ethnicity

Diagnosis and Management of Alpha Thalassemia Disorders

Universal screening for hemoglobinopathies using high-performance liquid chromatography: clinical results of 2.2 million screens

Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease

Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hours

DNA Banking for Epidemiologic Studies: A Review of Current Practices

Use of the phenylalanine:tyrosine ratio to test newborns for phenylketonuria in a large public health screening programme

The timing of demise in fetuses with trisomy 21 and trisomy 18

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