Published in Pediatrics on April 01, 1998
The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev (2010) 4.95
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab (2010) 3.80
Neonatal screening for congenital adrenal hyperplasia. Nat Rev Endocrinol (2009) 1.40
Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab (2010) 1.37
Human cytochromes P450 in health and disease. Philos Trans R Soc Lond B Biol Sci (2013) 1.36
Genetics of congenital adrenal hyperplasia. Best Pract Res Clin Endocrinol Metab (2009) 1.33
Nonclassic congenital adrenal hyperplasia. Int J Pediatr Endocrinol (2010) 1.17
Approach to the patient: the adult with congenital adrenal hyperplasia. J Clin Endocrinol Metab (2013) 1.10
Early androgen exposure modulates spatial cognition in congenital adrenal hyperplasia (CAH). Psychoneuroendocrinology (2008) 1.04
Clinical and environmental influences on metabolic biomarkers collected for newborn screening. Clin Biochem (2012) 0.93
Abiraterone acetate to lower androgens in women with classic 21-hydroxylase deficiency. J Clin Endocrinol Metab (2014) 0.92
Minor activities and transition state properties of the human steroid hydroxylases cytochromes P450c17 and P450c21, from reactions observed with deuterium-labeled substrates. Biochemistry (2012) 0.92
Results from 28 years of newborn screening for congenital adrenal hyperplasia in sapporo. Clin Pediatr Endocrinol (2014) 0.91
Testicular adrenal rest tumors in a patient with congenital adrenal hyperplasia. J Radiol Case Rep (2014) 0.91
Extraadrenal 21-hydroxylation by CYP2C19 and CYP3A4: effect on 21-hydroxylase deficiency. J Clin Endocrinol Metab (2008) 0.91
Human Cytochrome P450 21A2, the Major Steroid 21-Hydroxylase: STRUCTURE OF THE ENZYME·PROGESTERONE SUBSTRATE COMPLEX AND RATE-LIMITING C-H BOND CLEAVAGE. J Biol Chem (2015) 0.90
Congenital adrenal hyperplasia: diagnostic advances. J Inherit Metab Dis (2007) 0.90
Treatment and health outcomes in adults with congenital adrenal hyperplasia. Nat Rev Endocrinol (2013) 0.89
Congenital adrenal hyperplasia: an update in children. Curr Opin Endocrinol Diabetes Obes (2011) 0.88
Steroid profiling by gas chromatography-mass spectrometry and high performance liquid chromatography-mass spectrometry for adrenal diseases. Horm Cancer (2011) 0.87
Why human cytochrome P450c21 is a progesterone 21-hydroxylase. Biochemistry (2011) 0.87
Profiles of 21-Carbon Steroids in 21-hydroxylase Deficiency. J Clin Endocrinol Metab (2015) 0.86
Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria. Eur J Pediatr (2006) 0.85
Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab (2013) 0.84
High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency. PLoS One (2008) 0.83
Newborn screening for congenital adrenal hyperplasia in Tokyo, Japan from 1989 to 2013: a retrospective population-based study. BMC Pediatr (2015) 0.82
Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency). J Mol Diagn (2005) 0.82
False negative 17-hydroxyprogesterone screening in children with classical congenital adrenal hyperplasia. Eur J Pediatr (2007) 0.82
Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision). Clin Pediatr Endocrinol (2015) 0.81
Management of the adult with congenital adrenal hyperplasia. Int J Pediatr Endocrinol (2010) 0.80
The next 150 years of congenital adrenal hyperplasia. J Steroid Biochem Mol Biol (2015) 0.79
Birth length and weight in congenital adrenal hyperplasia according to the different phenotypes. Eur J Pediatr (2006) 0.78
Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia. Indian J Endocrinol Metab (2012) 0.78
Neonatal mass screening for 21-hydroxylase deficiency. Clin Pediatr Endocrinol (2016) 0.78
Synthesis of halogenated pregnanes, mechanistic probes of steroid hydroxylases CYP17A1 and CYP21A2. J Steroid Biochem Mol Biol (2011) 0.78
Newborn screening for congenital adrenal hyperplasia in New York State. Mol Genet Metab Rep (2016) 0.78
Research Resource: Correlating Human Cytochrome P450 21A2 Crystal Structure and Phenotypes of Mutations in Congenital Adrenal Hyperplasia. Mol Endocrinol (2015) 0.77
Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states. Mol Genet Metab (2015) 0.77
Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families. Eur J Endocrinol (2011) 0.77
Adrenal steroidogenesis and congenital adrenal hyperplasia. Endocrinol Metab Clin North Am (2015) 0.76
Single newborn screen or routine second screening for primary congenital hypothyroidism. Mol Genet Metab (2015) 0.75
Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolites. Clin Pediatr Endocrinol (2016) 0.75
Sperm retrieval and concomitant tumor resection in azoospermic men with congenital adrenal hyperplasia and bilateral testicular adrenal rest tumors: a case report. J Assist Reprod Genet (2016) 0.75
Congenital Adrenal Hyperplasia in an Elite Female Soccer Player; What Sports Medicine Clinicians Should Know about This? Asian J Sports Med (2012) 0.75
The influence of seasonality and manufacturer kit lot changes on 17α-hydroxyprogesterone measurements and referral rates of congenital adrenal hyperplasia in newborns. Eur J Pediatr (2016) 0.75
Twenty years experience in rapid identification of congenital adrenal hyperplasia in Hungary. Eur J Pediatr (2003) 0.75
Congenital Adrenal Hyperplasia. J Pediatr Adolesc Gynecol (2017) 0.75
Clitoral size in term newborns in Kumasi, Ghana. Int J Pediatr Endocrinol (2017) 0.75
Successful treatment of active ankylosing spondylitis with the anti-tumor necrosis factor alpha monoclonal antibody infliximab. Arthritis Rheum (2000) 4.62
Th17 cytokines interleukin (IL)-17 and IL-22 modulate distinct inflammatory and keratinocyte-response pathways. Br J Dermatol (2008) 3.19
Long-term angiographic and clinical outcome after percutaneous transluminal coronary angioplasty and intracoronary radiation therapy in humans. Circulation (1997) 3.12
Airway inflammation and bronchial microbial patterns in patients with stable chronic obstructive pulmonary disease. Eur Respir J (1999) 2.96
Multigenic basis for type I diabetes. Association of HRAS1 polymorphism with HLA-DR3, DQw2/DR4, DQw8. Diabetes (1990) 2.69
Measuring the use of mammography: two methods compared. Am J Public Health (1992) 2.07
Demand for DNA probe testing in three genetic centres in Britain (August 1986 to July 1987). J Med Genet (1989) 1.95
Early diagnosis of pancreatic cancer: neutrophil gelatinase-associated lipocalin as a marker of pancreatic intraepithelial neoplasia. Br J Cancer (2008) 1.93
TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers. Neurology (2010) 1.93
Validation of different techniques for the diagnosis of ventilator-associated pneumonia. Comparison with immediate postmortem pulmonary biopsy. Am J Respir Crit Care Med (1994) 1.74
Ventilator-associated pneumonia by Staphylococcus aureus. Comparison of methicillin-resistant and methicillin-sensitive episodes. Am J Respir Crit Care Med (1994) 1.72
Bronchial microbial patterns in severe exacerbations of chronic obstructive pulmonary disease (COPD) requiring mechanical ventilation. Am J Respir Crit Care Med (1998) 1.64
CD4+ T-lymphocytopenia in severe pulmonary tuberculosis without evidence of human immunodeficiency virus infection. Int J Tuberc Lung Dis (1997) 1.61
Bacterial colonisation in patients with bronchiectasis: microbiological pattern and risk factors. Thorax (2002) 1.59
Fatigue in rheumatoid arthritis reflects pain, not disease activity. Rheumatology (Oxford) (2006) 1.58
Are schizophrenia and affective disorder related? preliminary data from a family study. Am J Psychiatry (1993) 1.55
Fetal growth and autoimmune thyroid disease. Q J Med (1993) 1.53
Immunoprecipitation assay for autoantibodies to steroid 21-hydroxylase in autoimmune adrenal diseases. Clin Chem (1995) 1.51
Amikacin alone and in combination with trimethoprim-sulfamethoxazole in the treatment of actinomycotic mycetoma. J Am Acad Dermatol (1987) 1.40
Acute upper gastrointestinal bleeding in Jerusalem 1988-91: causes, characteristics and relation to nonsteroidal anti-inflammatory drugs. Isr J Med Sci (1993) 1.40
Assessing the variability of outcome for patients treated with localized prostate irradiation using different definitions of biochemical control. Int J Radiat Oncol Biol Phys (1996) 1.39
Seasonal fluctuations in acute upper gastrointestinal bleeding: lack of effect of nonsteroidal anti-inflammatory drugs. Am J Gastroenterol (1992) 1.39
Are acuity systems sufficient? Nurs Manage (1994) 1.38
Effect of a probiotic on liver aminotransferases in nonalcoholic fatty liver disease patients: a double blind randomized clinical trial. Eur Rev Med Pharmacol Sci (2011) 1.33
Unique CD8+ T cell-rich lymphoid aggregates in human uterine endometrium. J Leukoc Biol (1997) 1.31
Signatures of hippocampal oxidative stress in aged spatial learning-impaired rodents. Neuroscience (2001) 1.29
Hyponatremia-associated rhabdomyolysis. Nephron (1999) 1.29
Nutritional assessment with bioelectrical impedance analysis in maintenance hemodialysis patients. J Am Soc Nephrol (1995) 1.25
Diagnostic value of quantitative cultures of bronchoalveolar lavage and telescoping plugged catheters in mechanically ventilated patients with bacterial pneumonia. Am Rev Respir Dis (1989) 1.24
MR imaging in neurocysticercosis: a study of 56 cases. AJNR Am J Neuroradiol (1989) 1.23
A randomized trial of the discontinuation of primary and secondary prophylaxis against Pneumocystis carinii pneumonia after highly active antiretroviral therapy in patients with HIV infection. Grupo de Estudio del SIDA 04/98. N Engl J Med (2001) 1.23
Automated interpretation of high-energy collision-induced dissociation spectra of singly protonated peptides by 'SeqMS', a software aid for de novo sequencing by tandem mass spectrometry. Rapid Commun Mass Spectrom (1998) 1.21
Searching for the prototypic eye genetic network: Sine oculis is essential for eye regeneration in planarians. Proc Natl Acad Sci U S A (2000) 1.19
Bacteraemia caused by Campylobacter spp. J Clin Pathol (1994) 1.17
Deficient lower-segment Cesarean section scars: prevalence and risk factors. Ultrasound Obstet Gynecol (2008) 1.14
Automated interpretation of low-energy collision-induced dissociation spectra by SeqMS, a software aid for de novo sequencing by tandem mass spectrometry. Electrophoresis (2000) 1.13
Significance of urinary extravasation during renal colic. Urology (1987) 1.12
Effect of polyol gums on dental plaque in orthodontic patients. Am J Orthod Dentofacial Orthop (1995) 1.06
Increased prevalence of genotype F hepatitis B virus isolates in Buenos Aires, Argentina. J Clin Microbiol (1997) 1.06
Multifrequency bioelectrical impedance estimates the distribution of body water. J Appl Physiol (1985) (1995) 1.05
Metabolic alkalosis secondary to baking soda treatment of a diaper rash. Pediatrics (1981) 1.04
A cancer screening intervention for underserved Latina women by lay educators. J Womens Health (Larchmt) (2012) 1.03
Relapsing focal myositis: a case report. Clin Exp Rheumatol (1995) 1.03
An angiographic study of meningiomas of the posterior fossa. J Neurosurg (1971) 1.02
The pattern of breathing in acute severe asthma. Am Rev Respir Dis (1986) 1.02
The 35/50 kDa surface antigen of Trypanosoma cruzi metacyclic trypomastigotes, an adhesion molecule involved in host cell invasion. Parasite Immunol (1993) 1.01
Patient satisfaction with pharmacologic erection program. Urology (1992) 1.00
Delayed blockade of the kinin B1 receptor reduces renal inflammation and fibrosis in obstructive nephropathy. FASEB J (2008) 0.98
Autoantibodies to steroidogenic enzymes in autoimmune polyglandular syndrome, Addison's disease, and premature ovarian failure. J Clin Endocrinol Metab (1996) 0.98
A new type of mitogenic factor produced by Streptococcus pyogenes. FEBS Lett (1992) 0.97
Prophylaxis of the laminectomy membrane. An experimental study in dogs. J Neurosurg (1978) 0.96
Glutamic acid decarboxylase autoantibody assay using 125I-labelled recombinant GAD65 produced in yeast. Clin Chim Acta (1996) 0.96
Systemic candidiasis in Spanish heroin addicts: a possible source of infection. J Infect Dis (1987) 0.96
Identification of alkylidene hydrazides as glucagon receptor antagonists. J Med Chem (2001) 0.96
Reappraisal of the aetiology and prognostic factors of severe acute respiratory failure in HIV patients. Eur Respir J (2001) 0.96
O3 impacts on plant development: a meta-analysis of root/shoot allocation and growth. Plant Cell Environ (2006) 0.96
Management of a harem breeding colony of rhesus monkeys to reduce trauma-related morbidity and mortality. J Med Primatol (1985) 0.95
Telegenetic medicine: improved access to services in an underserved area. J Telemed Telecare (2006) 0.95
Bronchial bacterial colonization in patients with resectable lung carcinoma. Eur Respir J (2002) 0.95
Medicinal plants in Colombia. J Ethnopharmacol (1980) 0.94
Prediction of the presence of invasive disease from the measurement of extent of malignant microcalcification on mammography and ductal carcinoma in situ grade at core biopsy. Clin Radiol (2008) 0.94
Ultrasound-guided high dose rate conformal brachytherapy boost in prostate cancer: treatment description and preliminary results of a phase I/II clinical trial. Int J Radiat Oncol Biol Phys (1995) 0.93
Oligonucleotide probes for HLA-DQA and DQB genes define susceptibility to type 1 (insulin-dependent) diabetes mellitus. Diabetologia (1988) 0.92
Incidence and clinical relevance of bacterial contamination in preservation solution for liver transplantation. Transplant Proc (2009) 0.91
Gabapentin bioavailability: effect of dose and frequency of administration in adult patients with epilepsy. Epilepsy Res (1998) 0.91
Primary association of HLA-DQw8 with type I diabetes in DR4 patients. Diabetes (1989) 0.91
Production of recombinant protein Pap31 and its application for the diagnosis of Bartonella bacilliformis infection. Ann N Y Acad Sci (2005) 0.90
Sex differences in right hemisphere tasks. Brain Cogn (1998) 0.89
Broth medium for the successful culture of the fish pathogen Piscirickettsia salmonis . Dis Aquat Organ (2012) 0.89
Migrant female domestic workers: debating the economic, social and political impacts in Singapore. Int Migr Rev (1999) 0.89
Preoperative induction chemotherapy followed by concurrent chemoradiotherapy in advanced carcinoma of the oral cavity and oropharynx. Cancer (2000) 0.89
[Recent data on Rift Valley Fever epidemiology in Senegal]. Dakar Med (1996) 0.88
Early diagnosis of renal malfunction in diabetics. Abnormal proteinuria revealed by sodium dodecyl sulfate-polyacrylamide gel electrophoresis. Diabetologia (1979) 0.88
Initial bacterial colonization in patients admitted to a respiratory intensive care unit: bacteriological pattern and risk factors. Respiration (2001) 0.88
Massive plasmocytosis due to methimazole-induced bone marrow toxicity. Am J Hematol (2001) 0.88
Development of muscarinic analgesics derived from epibatidine: role of the M4 receptor subtype. J Pharmacol Exp Ther (1999) 0.87
Recovery of ventricular function with a left ventricular axial pump in a patient with end-stage toxic cardiomyopathy not a candidate for heart transplantation: first experience in Spain. Transplant Proc (2009) 0.87
Enhancing transparency and efficiency in reporting industry-sponsored clinical research: report from the Medical Publishing Insights and Practices initiative. Int J Clin Pract (2010) 0.87
The efficacy of intravesical Tice strain bacillus Calmette-Guerin in the treatment of interstitial cystitis: a double-blind, prospective, placebo controlled trial. J Urol (1997) 0.86
Adrenergic mechanisms in the metabolic adaptation to fasting and feeding: effects of phlorizin on diet-induced changes in sympathoadrenal activity in the rat. Metabolism (1980) 0.86
Ceramide mediates tumor necrosis factor effects on P450-aromatase activity in cultured granulosa cells. Endocrinology (1995) 0.86
A systematic approach to a self-generating fuzzy rule-table for function approximation. IEEE Trans Syst Man Cybern B Cybern (2000) 0.86
Autosomal dominant inheritance of autoantibodies to thyroid peroxidase and thyroglobulin--studies in families not selected for autoimmune thyroid disease. J Clin Endocrinol Metab (1991) 0.86
Improved local control and survival for surgically staged patients with locally advanced prostate cancer treated with up-front low dose rate iridium-192 prostate implantation and external beam irradiation. Int J Radiat Oncol Biol Phys (1994) 0.86
Sex-typed play in opposite-sex twins. Dev Psychobiol (1997) 0.86
Performance of selected lightweight wheelchairs on ANSI/RESNA tests. American National Standards Institute-Rehabilitation Engineering and Assistive Technology Society of North America. Arch Phys Med Rehabil (1997) 0.85
Genetic services in the context of DNA probes: what do they cost? J Med Genet (1989) 0.85
Poor patient awareness of the relationship between smoking and periodontal diseases. Br Dent J (2005) 0.85
More on unusual forms of meningococcal disease: septic polyarthritis. Am J Med (1986) 0.85
Sex differences in spatial ability in children. Behav Genet (1991) 0.85
A comparison between MALDI-MS and CE-MS data for biomarker assessment in chronic kidney diseases. J Proteomics (2012) 0.84
Effect of protein ingestion on urinary dopamine excretion. Evidence for the functional importance of renal decarboxylation of circulating 3,4-dihydroxyphenylalanine in man. J Clin Invest (1986) 0.84
Cerebral Pneumocystis carinii infection in AIDS. Lancet (1991) 0.84
Colonization and laboratory maintenance of Anopheles albimanus Wiedemann in Venezuela. Rev Inst Med Trop Sao Paulo (1999) 0.83
Can Alzheimer's type pathology influence the clinical phenotype of Parkinson's disease? Acta Neurol Scand (2005) 0.83
Steroid 21-hydroxylase autoantibodies: measurements with a new immunoprecipitation assay. J Clin Endocrinol Metab (1997) 0.83
A continuous method for the measurement of urease activity. Anal Biochem (1969) 0.83
Efficacy and safety of esmolol vs propranolol in the treatment of supraventricular tachyarrhythmias: a multicenter double-blind clinical trial. Am Heart J (1985) 0.83