research Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks
Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
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research Case 21-2012
The patient was diagnosed with anorexia nervosa and severe malnutrition, requiring urgent refeeding and monitoring.
research [Methotrexate to treat SAPHO syndrome with keloidal scars].
Methotrexate effectively managed SAPHO syndrome symptoms when other treatments failed.
research Biotin and biotinidase deficiency
Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
research Interventional Evaluation of Monoammonium Glycyrrhizinate-Glycine/DLMethionine Combination Tablets in Mild Alopecia Areata
The combination therapy may be more effective for mild alopecia areata, especially in patients with allergies.
research A Forty-Two-Year-Old Male with Multiple Gastrointestinal Polyps, Cutaneous Manifestations, and Nail Dystrophy
The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
research Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: A cross-sectional study
People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
research Dental considerations in acrodermatitis enteropathica: A report of two cases
Acrodermatitis enteropathica can be linked to dental issues, so thorough dental exams are important.
research Nail Matrix Pathology in Cronkhite–Canada Syndrome: The First Case Report
Inflammation may cause nail issues in Cronkhite–Canada Syndrome.
research Acrodermatitis enteropathica in an adult.
The woman's skin and health issues were due to a severe zinc deficiency.
research A Case of Hemi‐Isaac's Syndrome
A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
research Micturitional disturbance in a patient with adrenomyeloneuropathy (AMN)
AMN can cause bladder problems due to nerve damage.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research Resolution of Waldenström's macroglubulinemia related isolated neutropenia by immunochemotherapy
Immunochemotherapy successfully treated neutropenia in a patient with Waldenström's macroglobulinemia.
research 1385 Characterizing the expression of metabolic markers in alopecia areata
The research identified unique metabolic activities in immune cells associated with hair loss in Alopecia Areata.
research Serum Biotinidase Activity in Children Treated With Valproic Acid and Carbamazepine
Valproic acid does not change biotinidase enzyme activity in children's blood.
research Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D–dependent rickets type 2A: a case report
Calcium supplements improved bone deformities but not skin papules or hair loss.
research Thiopurine-induced Myelosuppression with Severe Sepsis in a Patient with Crohn's Disease: A Case Report
Testing for the NUDT 15 variant is crucial before starting azathioprine, especially in Asians.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research Marie-unna hereditary hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research Symptoms of Chronic Ketosis in Cows and Morphobiochemical Indicators of Blood
Chronic ketosis in cows causes appetite changes, anemia, skin issues, increased pulse, and biochemical imbalances.
research Steroid Responsive Mononeuritis Multiplex in the Cronkhite–Canada Syndrome
Steroid treatment improved both gut and nerve symptoms in a man with Cronkhite–Canada syndrome.
research Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
research Micturitional disturbance in a patient with adrenomyeloneuropathy (AMN)
Adrenomyeloneuropathy (AMN) can cause bladder problems due to nerve damage.
research Consumption of a low-carbohydrate and high-fat diet (the ketogenic diet) exaggerates biotin deficiency in mice
The ketogenic diet can worsen biotin deficiency, suggesting a need for biotin supplements.
research METHOTREXATE FOR GENERALIZED PUSTULAR PSORIASIS IN A 2-YEAR-OLD CHILD
Methotrexate effectively treated a 2-year-old's generalized pustular psoriasis without side effects.
research The Relationship Between Nutritional Anemia and Acne: A Case-Control Study
Acne is linked to vitamin B12 deficiency.
research The Malnourished Heart: An Unusual Case of Heart Failure
A woman's heart failure improved after she added vitamins and changed her diet from only cheese chips and cake.
research Corkscrew hairs
The woman has scurvy and needs more vitamin C.