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A 13-Steroid Serum Panel Based on LC-MS/MS: Use in Detection of Adrenocortical Carcinoma

Clinical chemistry (Baltimore, Md.), 2017-12, Vol.63 (12), p.1836-1846

2017

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Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells

Cell reports (Cambridge), 2018-01, Vol.22 (5), p.1236-1249

2018

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A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency

The journal of clinical endocrinology and metabolism, 2012-03, Vol.97 (3), p.E465-E475

2012

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The incidence of transient infantile pseudohypoaldosteronism in Ireland: A prospective study

Acta Paediatrica, 2021-04, Vol.110 (4), p.1257-1263

2021

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Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations

Hormone research in paediatrics, 2020-08, Vol.93 (2), p.137-142

2020

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Use of dissected paraffin block tissue as a source of mRNA for transcriptional profiling and biomarker identification: a review, with preliminary findings in adrenocortical carcinoma tissue

Acta biochimica polonica, 2022-05

2022

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Posaconazole-Induced Hypertension Masquerading as Congenital Adrenal Hyperplasia in a Child with Cystic Fibrosis

Case reports in medicine, 2020, Vol.2020 (2020), p.1-5

2020

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Isolated 17, 20 Lyase Deficiency Secondary to a Novel CYB5A Variant: Comparison of Steroid Metabolomic Findings with Published Cases Provides Diagnostic Guidelines and Greater Insight into Its Biological Role

Hormone research in paediatrics, 2021-03, Vol.93 (7-8), p.483-496

2021

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A Curious Case of Primary Amenorrhea

Clinical chemistry (Baltimore, Md.), 2020-09, Vol.66 (9), p.1150-1154

2020

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The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series

European journal of endocrinology, 2021-11, Vol.185 (5), p.729-741

2021

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The Diagnosis of Congenital Adrenal Hyperplasia in the Newborn by Gas Chromatography/Mass Spectrometry Analysis of Random Urine Specimens

The journal of clinical endocrinology and metabolism, 2002-08, Vol.87 (8), p.3682-3690

2002

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Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

The journal of clinical endocrinology and metabolism, 2012-02, Vol.97 (2), p.E257-E267

2012

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Kisspeptin Is a Novel Regulator of Human Fetal Adrenocortical Development and Function: A Finding With Important Implications for the Human Fetoplacental Unit

The journal of clinical endocrinology and metabolism, 2017-09, Vol.102 (9), p.3349-3359

2017

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Use of a povidone-iodine sponge to protect skin and prevent K-wire infection

Annals of the Royal College of Surgeons of England, 2013-04, Vol.95 (3), p.222-222

2013

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21-Hydroxylase deficiency in the neonate – trends in steroid anabolism and catabolism during the first weeks of life

The Journal of steroid biochemistry and molecular biology, 2013-11, Vol.138, p.334-347

2013

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Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis

American journal of medical genetics. Part A, 2004-07, Vol.128A (3), p.223-231

2004

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Proximal femoral resection without post-operative traction for the painful dislocated hip in young patients with cerebral palsy: a review of 79 cases

The bone & joint journal, 2014-05, Vol.96-B (5), p.701-706

2014

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Steroids excreted in urine by neonates with 21-hydroxylase deficiency. 4. Characterization, using GC–MS and GC–MS/MS, of 11oxo-pregnanes and 11oxo-pregnenes

Steroids, 2013-05, Vol.78 (5), p.468-475

2013

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DIFFERENTIAL REGULATION OF 11β-HYDROXYSTEROID DEHYDROGENASE TYPE 1 ACTIVITY IN PATIENTS WITH DIFFERING ETIOLOGIES OF HYPOPITUITARISM

Endocrine practice, 2018-10, Vol.24 (10), p.875-881

2018

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Use of the British National Formulary to measure limb length discrepancies in the paediatric outpatient setting

Annals of the Royal College of Surgeons of England, 2016-03, Vol.98 (3), p.234-234

2016

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Steroids excreted in urine by neonates with 21-hydroxylase deficiency. 2. Characterization, using GC–MS and GC–MS/MS, of pregnanes and pregnenes with an oxo- group on the A- or B-ring

Steroids, 2012-04, Vol.77 (5), p.382-393

2012

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Steroids excreted in urine by neonates with 21-hydroxylase deficiency. 3. Characterization, using GC–MS and GC–MS/MS, of androstanes and androstenes

Steroids, 2012-11, Vol.77 (13), p.1487-1501

2012

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Steroids excreted in urine by neonates with 21-hydroxylase deficiency: Characterization, using GC–MS and GC–MS/MS, of the D-ring and side chain structure of pregnanes and pregnenes

Steroids, 2010, Vol.75 (1), p.34-52

2010

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New strategies for detecting steroid metabolic disorders--paneling vs profiling

Clinical chemistry (Baltimore, Md.), 2012-08, Vol.58 (8), p.1262-1263

2012

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Challenges and benefits of endogenous steroid analysis by LC-MS/MS

Bioanalysis, 2011-11, Vol.3 (22), p.2549-2572

2011

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A 13-Steroid Serum Panel Based on LC-MS/MS: Use in Detection of Adrenocortical Carcinoma

Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells

A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency

The incidence of transient infantile pseudohypoaldosteronism in Ireland: A prospective study

Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations

Use of dissected paraffin block tissue as a source of mRNA for transcriptional profiling and biomarker identification: a review, with preliminary findings in adrenocortical carcinoma tissue

Posaconazole-Induced Hypertension Masquerading as Congenital Adrenal Hyperplasia in a Child with Cystic Fibrosis

Isolated 17, 20 Lyase Deficiency Secondary to a Novel CYB5A Variant: Comparison of Steroid Metabolomic Findings with Published Cases Provides Diagnostic Guidelines and Greater Insight into Its Biological Role

A Curious Case of Primary Amenorrhea

The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series

The Diagnosis of Congenital Adrenal Hyperplasia in the Newborn by Gas Chromatography/Mass Spectrometry Analysis of Random Urine Specimens

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Kisspeptin Is a Novel Regulator of Human Fetal Adrenocortical Development and Function: A Finding With Important Implications for the Human Fetoplacental Unit

Use of a povidone-iodine sponge to protect skin and prevent K-wire infection

21-Hydroxylase deficiency in the neonate – trends in steroid anabolism and catabolism during the first weeks of life

Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis

Proximal femoral resection without post-operative traction for the painful dislocated hip in young patients with cerebral palsy: a review of 79 cases

Steroids excreted in urine by neonates with 21-hydroxylase deficiency. 4. Characterization, using GC–MS and GC–MS/MS, of 11oxo-pregnanes and 11oxo-pregnenes

DIFFERENTIAL REGULATION OF 11β-HYDROXYSTEROID DEHYDROGENASE TYPE 1 ACTIVITY IN PATIENTS WITH DIFFERING ETIOLOGIES OF HYPOPITUITARISM

Use of the British National Formulary to measure limb length discrepancies in the paediatric outpatient setting

Steroids excreted in urine by neonates with 21-hydroxylase deficiency. 2. Characterization, using GC–MS and GC–MS/MS, of pregnanes and pregnenes with an oxo- group on the A- or B-ring

Steroids excreted in urine by neonates with 21-hydroxylase deficiency. 3. Characterization, using GC–MS and GC–MS/MS, of androstanes and androstenes

Steroids excreted in urine by neonates with 21-hydroxylase deficiency: Characterization, using GC–MS and GC–MS/MS, of the D-ring and side chain structure of pregnanes and pregnenes

New strategies for detecting steroid metabolic disorders--paneling vs profiling

Challenges and benefits of endogenous steroid analysis by LC-MS/MS

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