October 2021 in “Utah State Research and Scholarship (Utah State University)” This study found that folic acid deficiency in infant mice moderately worsened rotaviral disease, while zinc deficiency did not significantly affect rotaviral disease progression.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” This study found that patients with Bachmann-Bupp syndrome treated with DFMO showed improvements in hair growth, muscle tone, and development.
This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.
28 citations
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November 2013 in “The FASEB journal” In this study, a low-methionine diet significantly improved the health and physical traits of cystathionine β-synthase-deficient mice, contrasting with negative effects on mice with partial deficiency.
2 citations
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January 2008 in “International Journal of Neuroscience” This article presents a case of delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old man and reviews clinical and laboratory findings associated with the disorder, reporting no new results.
15 citations
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April 2007 in “Journal of child neurology” This case report describes an 11-month-old boy with Menkes disease, highlighting symptoms such as developmental delays and poor therapeutic response due to significant brain and vascular abnormalities.
7 citations
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May 2007 in “Nutrition Journal” This study found that due to variability in measurements, hair pluckability is not a reliable indicator of adult nutritional status, although it may hold potential in certain emergency situations if improved for consistency.
March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
November 2025 in “Scientific Reports” This study found that metabolic dysfunction-associated steatotic liver disease is linked to a higher risk of androgenetic alopecia, especially in women and individuals with certain lifestyle patterns.
34 citations
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August 2005 in “Veterinary Dermatology” This descriptive study reports that zinc deficiency in two dairy goats likely resulted from hereditary malabsorption, requiring life-long zinc supplementation to prevent skin lesions.
January 2024 in “Arquivos de Neuro-Psiquiatria” This case study reported on a 49-year-old male with muscle weakness and low potassium levels, suggesting a diagnosis of thyrotoxic hypokalemic periodic paralysis.
February 2026 in “Journal of Paediatrics and Child Health” This source highlights that gastric trichobezoar, although rare in children under 3, should be suspected in cases of chronic vomiting and gastric masses, with surgical removal as definitive treatment; multidisciplinary intervention is crucial to prevent serious complications and recurrence.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” This case study highlights the aggressive progression and complex management challenges of metastatic insulinomas, with an emphasis on considering early systemic chemotherapy and advanced therapies like everolimus and PRRT for improved outcomes.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This review discusses the skin manifestations associated with metabolic syndrome and related conditions in young populations, noting associations with obesity, insulin resistance, and neonatal obesity, but reports no new clinical results.
7 citations
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January 2018 in “Neurodegenerative Diseases” This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.
1 citations
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November 2022 in “Jurnal Ilmu Kesehatan Indonesia” In this study, human bone marrow mesenchymal stem cells were found to affect skin adnexa growth in diabetic burn-injured rats, but the effects were not statistically significant.
1 citations
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June 2025 in “Journal of Veterinary Internal Medicine” In this case study, a miniature donkey with multisystemic eosinophilic epitheliotropic disease was euthanized due to laminitis despite treatment for pruritus, inappetence, hypertriglyceridemia, and alopecia.
April 2017 in “Advances in Tissue Engineering & Regenerative Medicine Open Access” This study found that hydro alcoholic extract from the stem of Musa paradisiacal inhibited alpha amylase and alpha glucosidase enzymes in vitro, suggesting potential antidiabetic benefits.
27 citations
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November 2000 in “Journal of Veterinary Medicine Series B” This study found that experimentally induced iodine deficiency in growing male lambs led to hypothyroidism, resulting in stunted growth, reduced wool production, and disrupted sexual maturity.
1 citations
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July 2017 in “PubMed” This study describes two Danish cases of Cronkhite-Canada syndrome presenting with malnutrition and gastrointestinal issues; both patients underwent successful treatment and remission after developing colonic adenocarcinomas.
1 citations
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July 2024 in “Indian Journal of Case Reports” This article presents a case study of a 16-year-old male with GAPO syndrome, characterized by growth retardation, alopecia, pseudoanodontia, and optic atrophy, who sought dental treatment for missing teeth.
218 citations
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October 2013 in “Proceedings of the National Academy of Sciences of the United States of America” This study found that removing PPARγ specifically from mouse adipose tissue led to severe fat loss, insulin resistance, diabetes, and associated metabolic abnormalities.
1 citations
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March 2012 in “Revue neurologique” This study reports that both a 9-month-old with phenylketonuria on a phenylalanine-free diet and mice on a deficient diet exhibited severe health issues, highlighting the need for cautious dietary management.
3 citations
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December 1991 in “PubMed” This report describes an infant who was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder characterized by diverse skin changes, short stature, and other developmental anomalies.
In this thesis, researchers explored ways to enhance the management of myotonic dystrophy type 1 by investigating the genetic inheritance patterns, especially small-sized repeat expansions, and assessing cardiac care, energy expenditure, and body composition in affected individuals.
2 citations
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August 2016 in “Surgery for obesity and related diseases” This study aims to evaluate whether a subset of patients experience undetected hypothyroidism, termed the "famine response," during rapid weight loss after bariatric surgery, which may impact weight loss outcomes. Results are not reported in this abstract.
November 2025 in “Zenodo (CERN European Organization for Nuclear Research)” This study found that many women aged 40 to 65 in urban Bangalore have magnesium intake below recommended levels, with symptoms like hair loss and muscle cramps being widespread.
9 citations
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October 2015 in “Postgraduate Medical Journal” This case study illustrates the classic dermatological signs of scurvy in a man with unusual dietary habits, showcasing the importance of recognizing and treating vitamin C deficiency in marginalized populations.
2 citations
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October 2018 in “The journal of pediatrics/The Journal of pediatrics” This case report identified a 4-month-old boy with Menkes disease, a neurodegenerative disorder of copper metabolism, noting symptoms like recurrent seizures, developmental delay, and specific physical characteristics, confirmed by genetic sequencing showing a pathogenic ATP7A mutation and low serum copper and ceruloplasmin levels.
6 citations
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March 2016 in “PLoS ONE” This study characterized hair from a patient with a ribosomopathy and identified distinct differences, including reduced hair thickness and lipid content, compared to family members.