research Diffuse hair loss in Addison disease: A reason for X-linked adrenoleukodystrophy screening
Men with Addison disease should be screened for X-linked adrenoleukodystrophy if they have hair loss.
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research Recurrent pruritic polymorphic lesions associated with weight loss
A man with itchy skin lesions and weight loss was diagnosed with a rare skin condition linked to a pancreatic tumor.
research Acanthosis Nigricans during an HAIR-AN syndrome: "The Tree That Hides the Forest"
The case shows skin changes can indicate deeper health issues like insulin resistance, which are challenging to manage.
research Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene
A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
research Localized Primary Cutaneous Nodular Amyloidosis in a Patient With Paraproteinemia
An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria
Pegvaliase is recommended for treating adults with phenylketonuria.
research Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
research Cystathionine β‐synthase‐deficient mice thrive on a low‐methionine diet
Mice with CBS deficiency are healthier on a low-methionine diet.
research Abstract 2474: The mechanistic role of polyamines in DNA double-strand break repair
Polyamines help repair DNA breaks and may influence cancer development.
research Genetically Altered Expression of Spermidine/Spermine N1-Acetyltransferase Affects Fat Metabolism in Mice via Acetyl-CoA
Altering SSAT affects fat metabolism and body fat in mice.
research S2926 Hepatic Steatosis and Acute Liver Injury in Chronic Arsenic Exposure
Chronic arsenic exposure can cause liver damage and other health issues.
research Pernicious anemia in a patient with Type 1 diabetes mellitus and alopecia areata universalis
Patients with Type 1 diabetes should be screened for pernicious anemia.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Association of a polymorphism in the ornithine decarboxylase gene with male androgenetic alopecia
research A liquid chromatography/tandem mass spectrometry method for determination of aristolochic acid‐I in rat plasma
A reliable method was developed to measure aristolochic acid-I in rat blood.
research NUDT15 R139C-related thiopurine leukocytopenia is mediated by 6-thioguanine nucleotide-independent mechanism in Japanese patients with inflammatory bowel disease
The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
research PA33 When bones speak through nails: insights from a paediatric case series
Nail abnormalities in children can indicate deeper health issues.
research AN ATTEMPT TO ASSESS THE MAGNITUDE OF ENDOGENOUS ANDROGEN PRODUCTION IN A CASE OF THE ADRENOGENITAL SYNDROME*
A 17-year-old female with adrenogenital syndrome produces very high levels of androgens, which prevent complete feminization despite high estrogen doses.
research NUDT15,FTO, andRUNX1genetic variants and thiopurine intolerance among Japanese patients with inflammatory bowel diseases
Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
research Congenital Copper Deficiency: Copper Therapy and Dopamine‐β‐Hydroxylase Activity in the Mottled (Brindled) Mouse
Copper therapy improved health and enzyme activity in mice with copper deficiency.
research 34 A patient with insulin-dependent diabetes mellitus 1 year after being diagnosed with membranous glomerulonephritis
A 9-year-old girl developed type 1 diabetes and alopecia after being treated for a rare kidney disease.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
research Distribution of polyamines may be altered in different scalp regions of patients with hair loss
Hair loss patients may have different polyamine levels in various scalp areas.
research Challenges in the Diagnosis of Simple-Virilizing Congenital Adrenal Hyperplasia: A Case Report
Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
research Graying of Hair in Rats Fed a Ration Deficient in Lysine
research Graying of Hair in Rats Fed a Ration Deficient in Lysine
research Enteropathica Acrodermatitis Complicated by Necrotising Fasciitis in an Infant Admitted to the Paediatric Emergency Department of the Gabriel Touré University Hospital
A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
research IMMUNOLOGICAL AND GENETIC ASPECTS OF HEREDITARY ANTIBODY DEFICIENCIES
Children with frequent severe infections and low antibodies should be checked for immune deficiencies.