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10 merged results for "Steroid 21-Hydroxylase Deficiency"

Partial results: at least one source did not answer. Available results are shown rather than treating an upstream outage as zero matches.

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  1. Genetic characteristics and clinical features of pediatric congenital adrenal hyperplasia in Korea.

    Kim I, Cho MH, Lee YA, Lee YJ · 2026 · Endocrine

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.1007/s12020-026-04718-0

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  2. Using machine learning to discriminate non-classical 21-hydroxylase deficiency from polycystic ovary syndrome: an external validation study.

    Lecot-Connan T, Bachelot G, Donadille B, Sayed C · 2026 · European journal of endocrinology

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.1093/ejendo/lvag114

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  3. Biochemical control in young women with congenital adrenal hyperplasia taking oral contraceptives: a prospective observational study.

    Kouri C, Sommer G, Cavalieri Costa F, de Miranda MC · 2026 · European journal of endocrinology

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.1093/ejendo/lvag160

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  4. Steroid profiling in congenital adrenal hyperplasia: comparing immunoassays and LC-MS/MS accuracy.

    Taba-Tabai S, Ozsu E, Cetin SK, Siklar Z · 2026 · Journal of pediatric endocrinology & metabolism : JPEM

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.1515/jpem-2025-0538

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  5. Rare types of congenital adrenal hyperplasia: report of five children with 11β-hydroxylase deficiency including pathogenic and novel CYP11B1 variants.

    Bala A, Banerjee S, George A, Srivastava P · 2026 · Archives of endocrinology and metabolism

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.20945/2359-4292-2026-0073

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  6. Timing of 17-hydroxyprogesterone measurement during the standard-dose Synacthen test in pediatric patients evaluated for non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

    Çiftci N, Çamtosun E, Dündar İ, Ünal E · 2026 · Archives of endocrinology and metabolism

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.20945/2359-4292-2026-0081

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  7. Very-early-onset autosomal dominant polycystic kidney disease coexisting with congenital adrenal hyperplasia in a newborn: a case report.

    Kim C, Kim HY, Jung YH, Choi CW · 2026 · Childhood kidney diseases

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.3339/ckd.26.022

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  8. Stress-associated transient enlargement of pre-existing adrenal hyperplasia in 21-hydroxylase deficiency: a case report.

    Zheng C, Zhao L, Chen T · 2026 · Frontiers in endocrinology

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.3389/fendo.2026.1878903

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  9. Serum 11-ketotestosterone is associated with overall disease-control status but adds limited information beyond androstenedione in children with 21-hydroxylase deficiency.

    Lan T, Ruan W, Chen K, Yang M · 2026 · Frontiers in endocrinology

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.3389/fendo.2026.1913565

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  10. Short-Read NGS of a Long-Range CYP21A2 Amplicon as an Improved Alternative to Sanger Sequencing for Congenital Adrenal Hyperplasia Genetic Testing.

    Antysheva Z, Bogdanov V, Rutkovskaya E, Stepanova A · 2026 · International journal of molecular sciences

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.3390/ijms27156938

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    • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer