10 citations
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January 1992 in “Screening” This study concluded that newborn screening for biotinidase deficiency effectively identified cases and likely prevented irreversible complications from the disorder in some infants.
December 2025 in “American Journal of Case Reports” This case report highlights the importance of thorough examination in detecting ectopic thyroid glands in patients with borderline congenital hypothyroidism identified during newborn screening, as early intervention can prevent future complications and improve outcomes.
January 2023 in “Pediatrics International” This case study describes the diagnosis and treatment of a Japanese girl with non-classical 21-hydroxylase deficiency, highlighting the normalization of testosterone and control of clitoromegaly after hydrocortisone therapy, but continued overgrowth issues.
89 citations
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January 2020 in “PubMed” This review discusses biotinidase deficiency, noting that biotin treatment from birth can prevent symptoms, but acknowledges the complexity and need for further understanding due to late-onset cases with varied clinical findings.
16 citations
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September 2008 in “Dermatologic Therapy” This review discusses the clinical features, genetics, and treatment of 21-hydroxylase deficiency, a common type of congenital adrenal hyperplasia, and reports no new research findings.
13 citations
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July 2009 in “Pediatrics in Review” This review discusses the diagnosis and treatment of 21-hydroxylase deficiency in congenital adrenal hyperplasia and emphasizes the need for earlier detection and proper management; it reports no clinical results.
2 citations
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May 2018 in “Expert opinion on orphan drugs” This review discusses Omenn syndrome, a form of severe combined immunodeficiency, highlighting its immunopathology and genetic defects without presenting new clinical results.
2 citations
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October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” This study reports that the Swedish newborn screening program for phenylketonuria, galactosaemia, and biotinidase deficiency is effective, with high sensitivity and specificity, and lower false positive rates compared to other countries, while genetic variants impact detection and incidence patterns in Sweden.
157 citations
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May 2021 in “Endocrine Reviews” This review discusses recent advancements in understanding and managing congenital adrenal hyperplasia, including improvements in screening, diagnostics, and potential genetic and cell-based treatments, but reports no new clinical findings.
2 citations
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April 2013 in “Expert Review of Endocrinology & Metabolism” This review discusses the challenges in diagnosing different causes of adult androgen excess and outlines current screening and management strategies but reports no new findings.
June 2026 in “Quality in Sport” This study reviewed the current understanding of congenital adrenal hyperplasia from 21-hydroxylase deficiency, highlighting the impact of universal newborn screening in reducing mortality and discussing ongoing treatment challenges and future therapeutic prospects.
8 citations
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December 2019 in “Molecular genetics and metabolism reports” This study found that early biochemical screening and molecular confirmation are crucial for distinguishing profound from partial biotinidase deficiency, which supports timely treatment and management in symptomatic children.
September 2016 in “British Journal of Dermatology” Doctors need more training in skin cancer screening, a new treatment is effective for a skin condition, better diagnosis methods for skin cancer are available, hair loss in women may be linked to hormones and cholesterol, certain skin care products might cause hair loss, babies' skin gets weaker after birth, and a gene mutation might be linked to eczema.
4 citations
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October 2006 in “Anais Brasileiros de Dermatologia” This case report describes a patient with alopecia areata treated with diphencyprone, who experienced both successful hair regrowth and later intense hair shedding, compatible with telogen effluvium, suggesting a possible link between contact dermatitis treatments and telogen effluvium onset.
3 citations
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April 2009 in “Pediatrics in review” This review covers approaches to diagnosing inherited metabolic disorders in pediatric patients and emphasizes the need for clinicians to recognize and manage these conditions, but it reports no clinical results.
January 2026 in “Pediatrics International” This report examines the cautious approach to administering live vaccines to an infant with a heterozygous FOXN1 variant, noting the importance of monitoring TREC levels and immune function indicators in guiding vaccination decisions in such cases.
15 citations
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August 2022 in “The Application of Clinical Genetics” This review describes the clinical presentation, diagnosis, and management of adrenomyeloneuropathy, including rehabilitative therapies and spasticity management, and reports no new clinical results.
1 citations
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February 1999 in “Journal of Paediatrics and Child Health” This book review, published in the Journal of Paediatrics and Child Health, provides no new research findings.
January 2015 in “Springer eBooks” This chapter reviews polycystic ovary syndrome's clinical features, highlighting diagnostic criteria and management strategies, and reports no new findings; the authors emphasize the need for targeted treatment approaches.
46 citations
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December 2003 in “Advances in neonatal care” This article reviews fetal scalp hair formation and related disorders but reports no new research results.
92 citations
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August 2017 in “Proceedings of the National Academy of Sciences of the United States of America” This study found that newborn mouse skin organoids can robustly grow hair in vivo, while adult organoids require specific interventions to restore their hair-forming ability.
August 2018 in “Journal of The American Academy of Dermatology” Children with alopecia areata should only get thyroid screening if they have Down syndrome, a family history of thyroid disease, atopy, or signs of thyroid problems.
January 2024 in “Wiadomości Lekarskie” This source describes the implementation of a province-wide lung cancer screening program in Ontario, emphasizing that organized, program-based low-dose CT screening for high-risk populations is seen as more effective in reducing cancer incidence and mortality, while being cost-effective compared to non-organized screenings.
January 2022 in “Bio web of conferences/BIO web of conferences” This study concluded that the elemental composition of tail brush hair in newborn calves can indicate trace element supply to the fetus during the last months of pregnancy.
49 citations
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March 2009 in “Archives of Gynecology and Obstetrics” This study found that age, pre-pregnancy BMI, and family history of diabetes were independent predictors of gestational diabetes in Iranian women, with selective screening missing few cases among low-risk groups.
7 citations
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December 2014 in “Gynecological Endocrinology” This study found that LC-MS/MS is a more reliable method than immunoassays for measuring serum 17OHP and androgen levels in women with hyperandrogenism.
February 2019 in “Neoreviews” This case report details the diagnosis and management of argininosuccinate lyase deficiency in an infant, emphasizing initial symptoms, treatment strategies, and subsequent liver transplant leading to recovery.
5 citations
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November 2020 in “Frontiers in Cell and Developmental Biology” This study introduced a simple and reliable in vitro assay capable of large-scale simultaneous screening of hair growth-promoting compounds using a 3D co-culture system of human dermal papilla and outer root sheath cells.
114 citations
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March 2010 in “Zebrafish” This review discusses the use of the zebrafish lateral line system as a model to study hair cell loss, protection, and regeneration, with potential implications for human hearing research.
January 1982 in “Journal of The American Academy of Dermatology” Experts discussed treatments for skin conditions in children, emphasizing hydration, cautious medication use, and early intervention for infections.