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Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

The journal of clinical endocrinology and metabolism, 2018-11, Vol.103 (11), p.4043-4088

2018

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Effect of Dried Blood Spot Quality on Newborn Screening Analyte Concentrations and Recommendations for Minimum Acceptance Criteria for Sample Analysis

Clinical chemistry (Baltimore, Md.), 2016-03, Vol.62 (3), p.466-475

2016

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Increased Prevalence of Fractures in Congenital Adrenal Hyperplasia: A Swedish Population-based National Cohort Study

The journal of clinical endocrinology and metabolism, 2022-01, Vol.107 (2), p.e475-e486

2022

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Newborn Screening TSH Values Less Than 15 mIU/L Are Not Associated With Long-term Hypothyroidism or Cognitive Impairment

The journal of clinical endocrinology and metabolism, 2020-09, Vol.105 (9), p.e3329-e3338

2020

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Newborn Screening for Congenital Adrenal Hyperplasia in New Zealand, 1994–2013

The journal of clinical endocrinology and metabolism, 2015-03, Vol.100 (3), p.1002-1008

2015

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Evaluating the Low-Dose ACTH Stimulation Test in Neonates: Ideal Times for Cortisol Measurement

The journal of clinical endocrinology and metabolism, 2020-12, Vol.105 (12), p.1-e4550

2020

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Newborn Screening for Congenital Adrenal Hyperplasia: Additional Steroid Profile using Liquid Chromatography-Tandem Mass Spectrometry

The journal of clinical endocrinology and metabolism, 2007-07, Vol.92 (7), p.2581-2589

2007

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Filter Paper as a Blood Sample Collection Device for Newborn Screening

Clinical chemistry (Baltimore, Md.), 2016-03, Vol.62 (3), p.423-425

2016

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National Academy of Clinical Biochemistry Laboratory Medicine Practice Guidelines: Follow-Up Testing for Metabolic Disease Identified by Expanded Newborn Screening Using Tandem Mass Spectrometry; Executive Summary

Clinical chemistry (Baltimore, Md.), 2009-09, Vol.55 (9), p.1615-1626

2009

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A Case of Increased C5-OH Acylcarnitine

Clinical chemistry (Baltimore, Md.), 2016-09, Vol.62 (9), p.1278-1279

Peake, Roy W A

2016

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Newborn screening by whole-genome sequencing: ready for prime time?

Clinical chemistry (Baltimore, Md.), 2014-09, Vol.60 (9), p.1243-1244

2014

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Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia

The journal of clinical endocrinology and metabolism, 2004-08, Vol.89 (8), p.3687-3693

2004

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Two Novel Mutations of the TSH-β Subunit Gene Underlying Congenital Central Hypothyroidism Undetectable in Neonatal TSH Screening

The journal of clinical endocrinology and metabolism, 2010-09, Vol.95 (9), p.E98-E103

2010

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A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: Data from the Italian Registry for Congenital Hypothyroidism (1991-1998)

The journal of clinical endocrinology and metabolism, 2002-02, Vol.87 (2), p.557-562

2002

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Neonatal screening

Journal of tropical pediatrics (1980), 2014-02, Vol.60 (1), p.1-3

Simkiss, D

2014

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Parents' of Deaf Children Evaluative Accounts of the Process and Practice of Universal Newborn Hearing Screening

Journal of deaf studies and deaf education, 2005-04, Vol.10 (2), p.134-145

2005

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Improving Neonatal Screening for Congenital Adrenal Hyperplasia

The journal of clinical endocrinology and metabolism, 2004-08, Vol.89 (8), p.3685-3686

Speiser, Phyllis W

2004

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A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism

Journal of public health (Oxford, England), 1998-09, Vol.20 (3), p.331-343

1998

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Assessment of Gestational Age in the Cameroonian Newborn Infant: A Comparison of Four Scoring Methods

Journal of tropical pediatrics (1980), 2004-10, Vol.50 (5), p.285-291

2004

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Determination and assessment of the stability of phenylalanine and tyrosine in blood spots by HPLC

Clinical chemistry (Baltimore, Md.), 1992-10, Vol.38 (10), p.2162

1992

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Simple indicator for screening of low birth weight (LBW) infants in the community

Journal of tropical pediatrics (1980), 1991-12, Vol.37 (6), p.333-333

1991

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Evaluating the effect of data standardization and validation on patient matching accuracy

Journal of the American Medical Informatics Association : JAMIA, 2019-05, Vol.26 (5), p.447-456

2019

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Simultaneous Measurement of 25 Inflammatory Markers and Neurotrophins in Neonatal Dried Blood Spots by Immunoassay with xMAP Technology

Clinical chemistry (Baltimore, Md.), 2005-10, Vol.51 (10), p.1854-1866

2005

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Screening for Congenital Hypothyroidism: The Significance of Threshold Limit in False-Negative Results

The journal of clinical endocrinology and metabolism, 2010-09, Vol.95 (9), p.4283-4290

2010

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Differences in Birth Weight for Gestational Age Distributions According to the Measures Used to Assign Gestational Age

American journal of epidemiology, 2010-04, Vol.171 (7), p.826-836

2010

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Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

Effect of Dried Blood Spot Quality on Newborn Screening Analyte Concentrations and Recommendations for Minimum Acceptance Criteria for Sample Analysis

Increased Prevalence of Fractures in Congenital Adrenal Hyperplasia: A Swedish Population-based National Cohort Study

Newborn Screening TSH Values Less Than 15 mIU/L Are Not Associated With Long-term Hypothyroidism or Cognitive Impairment

Newborn Screening for Congenital Adrenal Hyperplasia in New Zealand, 1994–2013

Evaluating the Low-Dose ACTH Stimulation Test in Neonates: Ideal Times for Cortisol Measurement

Newborn Screening for Congenital Adrenal Hyperplasia: Additional Steroid Profile using Liquid Chromatography-Tandem Mass Spectrometry

Filter Paper as a Blood Sample Collection Device for Newborn Screening

National Academy of Clinical Biochemistry Laboratory Medicine Practice Guidelines: Follow-Up Testing for Metabolic Disease Identified by Expanded Newborn Screening Using Tandem Mass Spectrometry; Executive Summary

A Case of Increased C5-OH Acylcarnitine

Newborn screening by whole-genome sequencing: ready for prime time?

Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia

Two Novel Mutations of the TSH-β Subunit Gene Underlying Congenital Central Hypothyroidism Undetectable in Neonatal TSH Screening

A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: Data from the Italian Registry for Congenital Hypothyroidism (1991-1998)

Neonatal screening

Parents' of Deaf Children Evaluative Accounts of the Process and Practice of Universal Newborn Hearing Screening

Improving Neonatal Screening for Congenital Adrenal Hyperplasia

A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism

Assessment of Gestational Age in the Cameroonian Newborn Infant: A Comparison of Four Scoring Methods

Determination and assessment of the stability of phenylalanine and tyrosine in blood spots by HPLC

Simple indicator for screening of low birth weight (LBW) infants in the community

Evaluating the effect of data standardization and validation on patient matching accuracy

Simultaneous Measurement of 25 Inflammatory Markers and Neurotrophins in Neonatal Dried Blood Spots by Immunoassay with xMAP Technology

Screening for Congenital Hypothyroidism: The Significance of Threshold Limit in False-Negative Results

Differences in Birth Weight for Gestational Age Distributions According to the Measures Used to Assign Gestational Age

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