16 citations
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January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
5 citations
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June 2024 in “Experimental Dermatology” High beta-hydroxybutyrate levels may worsen hair loss in alopecia areata.
1 citations
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January 2025 in “Pediatria i Medycyna Rodzinna” Accurate diagnosis and zinc supplements can improve life quality in acrodermatitis enteropathica, even with normal zinc levels.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
3 citations
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
19 citations
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January 2012 in “International Journal of Trichology” Propionibacterium acnes might be linked to hair casts and possibly alopecia.
1 citations
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May 2019 in “DOAJ (DOAJ: Directory of Open Access Journals)” Acrodermatitis enteropathica can be linked to dental issues, so thorough dental exams are important.
1 citations
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January 2024 in “Pediatric Endocrinology Diabetes and Metabolism” Cinacalcet may help treat hereditary vitamin D resistant rickets safely.
8 citations
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June 1981 in “Clinica Chimica Acta”
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
69 citations
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May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
January 2023 in “Skin appendage disorders” A woman's hair grew back after treatment for a rare hair loss caused by proton therapy.
11 citations
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January 2013 in “Revista Brasileira De Terapia Intensiva” Eating pacu-manteiga fish can cause Haff disease, leading to severe muscle damage.
11 citations
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April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
14 citations
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August 2021 in “Molecular Genetics and Metabolism Reports” Pegvaliase effectively reduces blood phenylalanine levels in most PKU patients, but requires personalized plans and good communication to manage side effects.
18 citations
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October 2022 in “JCI Insight” Abnormal amino acid metabolism may worsen rosacea symptoms.
40 citations
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July 2008 in “PROTEOMICS” A new model helps study acne and test treatments.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
19 citations
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March 1961 in “Nature” A fatty acid/protein complex in human hair helps protect it from damage.
1 citations
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November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
2 citations
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May 2021 in “Neuropathology & applied neurobiology/Neuropathology and applied neurobiology” Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
1 citations
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September 2007 in “European journal of paediatric neurology” Low dose valproic acid treatment caused hair loss in a young patient.
May 2023 in “Research Square (Research Square)” Patients with acne and insulin resistance have different blood metabolites compared to those with only acne, which could help in diagnosis and treatment.
23 citations
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July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
36 citations
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October 2008 in “European journal of paediatric neurology” Valproic acid treatment may cause temporary hair loss due to reduced zinc and biotinidase levels, which tend to normalize after 6 months.
June 1987 in “Pediatric Neurology Briefs” Biotinidase deficiency can cause symptoms like sleepiness, hair loss, and seizures.
September 2009 in “European journal of paediatric neurology” Biotin supplements did not significantly reduce hair loss in rats on valproic acid.
2 citations
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June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.