research Primary and Secondary Disturbances in Trace Element Metabolism Connected with Genetic Metabolic Disorders
Genetic disorders can disrupt mineral and trace element metabolism, affecting health.
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150-180 / 1000+ resultsresearch Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Bleeding tendency with corkscrew hair
Low vitamin C caused bleeding and corkscrew hair, resolved with vitamin C treatment.
research The problem of excessive hair loss as a signal for the diagnosis of coeliac disease – A family case
Excessive hair loss can be an early sign of celiac disease.
research TRICHOTILLOMANIA WITH GIANT GASTRIC TRICHOBEZOAR IN A FEMALE CHILD: A CASE REPORT
An 11-year-old girl with Trichotillomania developed a large hairball in her stomach, treated with medication, therapy, and family education.
research Ayurvedic Management Of Vitamin B12 Deficiency-A Case Study
Ayurvedic treatment improved Vitamin B12 levels and symptoms.
research Novel association of trichothiodystrophy with autoimmune thyroiditis and autoimmune hemolytic anemia: A case report
A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research Androgenetic Alopecia: A Chronic or Pubertal Onset Disease Retarded by Blood Donation
Androgenetic alopecia is a long-term, immune-related disorder that starts during puberty due to androgen secretion, and it might be improved with iron tablets, platelet transfusion, and anti-inflammation therapy.
research Somatic Outcomes and Nutritional Management of Anorexia Nervosa
Early and precise nutritional intervention is crucial for managing anorexia nervosa.
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research Effect of oral selenium supplementation on hair health of patients with beta thalassemia major
research Editorial Board
Biotin is important for metabolism, with specific daily intake recommendations, and deficiency can cause health problems.
research Monilethrix: A rare hereditary condition
Monilethrix is a rare genetic hair disorder that's hard to treat.
research Vitamin B12 levels in patients with chronic telogen effluvium.
People with chronic hair loss may have a higher chance of Vitamin B12 deficiency.
research MON-913 Testosterone Secreting Ovarian Tumor: A Rare Cause of Erythrocytosis and Pulmonary Embolus
A rare ovarian tumor that produced testosterone caused a blood clot in the lungs and increased red blood cells in a woman.
research Trichobezoar: An Uncommon Cause of Upper GI Bleeding
A hairball in the stomach can cause serious issues and may need surgery and psychiatric care.
research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
research P730 High-dosed intravenous iron replacement therapy does not hinder drug-induced amelioration of disease activity in IBD patients with iron deficiency anaemia
High-dose intravenous iron therapy doesn't interfere with treatment improvements in IBD patients with iron deficiency anemia.
research A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research The skin as a window on internal disorders: Two cases of internal malignancy and hypervitaminosis B12
Skin changes and high vitamin B12 levels can be early signs of cancer.
research Primary thyroid tuberculosis: a rare hypothyroidism etiology
Thyroid tuberculosis can cause hypothyroidism and should be considered when diagnosing cervical masses.
research Iron deficiency and daily physical activity in female military personnel
Iron deficiency is common in female military personnel but doesn't significantly impact daily physical activity.
research Biotinidase Enzyme Deficiency ( Case Report )
A rare biotin deficiency in an Iraqi family caused severe symptoms but was successfully treated with lifelong biotin.
research Moniletherix
Monilethrix causes short, fragile hair with no specific treatment available.
research Oligosecretory multiple myeloma: Unusual presentation of a rare clinical disease
A woman with a rare form of multiple myeloma had a headache and a skull mass, which led to her diagnosis after tests and a biopsy.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.