research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
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780-810 / 1000+ results research Neurochemical and Immunocytochemical Studies of Catecholamine System in the Brindled Mouse
Brindled mice show abnormal catecholamine neuron development due to copper deficiency.
research HPA axis stress reactivity and hair cortisol concentrations in recently detoxified alcoholics and healthy controls with and without childhood maltreatment
Alcohol dependence affects stress hormone levels more than childhood maltreatment.
research Combination of Netherton Syndrome and Hypopituitarism with Isolated Somatotropin Deficiency: Case Study
Treating Netherton syndrome with growth hormone and dupilumab improves growth safely.
research Lack of classic histology should not prevent diagnosis of necrolytic acral erythema
Consider necrolytic acral erythema in similar cases and treat with oral zinc sulfate.
research Edematous striae distensae
The girl's swelling and skin issues improved with fluid restriction and diuretics.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research Serum vitamin D level is related to disease severity in pediatric alopecia areata
Low vitamin D can worsen pediatric alopecia areata.
research Modern approaches to diagnostics of hyperandrogenism distributed forms in reproductive aged women
Accurate diagnosis of hyperandrogenism, especially PCOS, is crucial for managing fertility and metabolic risks in women.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Amino Acid Compositions of Human Hair Fibrous Protein Components Purified with Two‐dimensional Electrophoresis
Human hair proteins have similar cysteine and glycine levels to skin proteins.
research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research Long‐Term Management with Adipose Tissue‐Derived Mesenchymal Stem Cells and Conventional Treatment in a Dog with Hepatocutaneous Syndrome
Combining amino acid and stem cell therapy may help manage hepatocutaneous syndrome in dogs.
research [Hyperprolactinemia and hypophyseal hypothyroidism as cofactors in hirsutism and androgen-induced alopecia in women].
Hormonal imbalances, including high prolactin and thyroid issues, contribute to hair growth problems in women.
research A case of localized uncombable hair syndrome
A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
Umbilical cord blood transplantation improved the boy's symptoms despite complications.
research Cysteine contents of purified human hair low-sulfur protein components
research Mice Expressing a Mutant Krt75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita
research EFFECT OF "AMINOPTERIN" ON EPITHELIAL TISSUES
Aminopterin effectively improves skin conditions but has toxic side effects that need careful monitoring.
research Zinc deficiency in sheep and goats: Three field cases
Zinc supplements quickly improved health issues in sheep and goats.
research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions
A new gene mutation causes a rare type of hair loss.
research A Case of Satoyoshi Syndrome: A Multisystem Disorder
Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
research A clinical evaluation of a permanent hair dye designed to reduce allergic contact dermatitis and hair damage
The ammonia-free hair dye is safe and improves hair shine, color, moisture, porosity, and combability.
research Congenital and Hereditary Skin Diseases
Goats can have various genetic skin diseases affecting hair, skin, and thyroid function.
research Diagnosis by Hair Sample:A Rare Case of Netherton Syndrome in a 2-Year-Old Girl
Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
research Case of Cronkhite Canada Syndrome - A Non-Inherited Gastrointestinal Polyposis Syndrome
A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research Acquired progressive kinking of the hair in a Korean female adolescent
A Korean girl developed kinky hair without known cause or effective treatment.
research Metabolic syndrome in alopecia areata: an observational study at a tertiary care center
There is no significant link between metabolic syndrome and alopecia areata.
research Netherton's Syndrome.
A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.