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    1. Newborn screening for biotinidase deficiency: pilot study and follow-up of identified cases Screening · 1992 · 10 citations
    2. Delayed Diagnosis of Ectopic Thyroid Due to Ignored Borderline Result of Newborn Screening for Congenital Hypothyroidism American Journal of Case Reports · 2025
    3. Clinical features of non‐classical 21‐hydroxylase deficiency after normal newborn mass screening Pediatrics International · 2023
    4. Biotinidase Deficiency: Prevalence, Impact And Management Strategies. PubMed · 2020 · 89 citations
    5. Congenital adrenal hyperplasia Dermatologic Therapy · 2008 · 16 citations
    6. Congenital Adrenal Hyperplasia Pediatrics in Review · 2009 · 13 citations
    7. Advances in genetic and molecular understanding of Omenn syndrome - implications for the future Expert opinion on orphan drugs · 2018 · 2 citations
    8. Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency OPAL (Open@LaTrobe) (La Trobe University) · 2016 · 2 citations
    9. Nonclassic congenital adrenal hyperplasia and the heterozygote carrier Expert Review of Endocrinology & Metabolism · 2013 · 2 citations
    10. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency epidemiology, etiopathogenesis, clinical presentation, treatment – a systematic review Quality in Sport · 2026
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    1. new born daughter at Norwood 3 1 month on min + fin (pic) Reddit · 5 Jul 2025

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