research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
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720-750 / 1000+ results research [Regression analysis of serum bone metabolic markers and traditional Chinese medicine syndromes in patients with CKD-MBD].
Mild changes in bone markers relate to TCM syndromes in CKD-MBD patients.
research Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease
A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
research Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation
Msx2 deficiency in mice leads to bone growth and organ development problems.
research Psoriasiform Lesions and Abscesses as Initial Manifestations of Severe Hypothyroidism in a Previously Healthy 15‐Year‐Old Girl
Severe hypothyroidism can cause unusual skin problems that improve with thyroid treatment.
research Cutaneous calcinosis of scleroderma. Successful treatment with intralesional adrenal steroids.
Intralesional steroid injections can effectively treat calcinosis and ulcers in scleroderma.
research Autoimmune polyglandular syndrome type 2, alopecia universalis and Crohn's disease
Managing multiple autoimmune diseases in one patient is extremely challenging.
research 1α,25-Dihydroxyvitamin D3 Modulates the Hair-Inductive Capacity of Dermal Papilla Cells: Therapeutic Potential for Hair Regeneration
Vitamin D3 can help improve hair growth by enhancing the function of specific skin cells and could be useful in hair regeneration treatments.
research Reviewer #2 (Public Review): CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Enhancing 1α-Hydroxylase Activity with the 25-Hydroxyvitamin D-1α-Hydroxylase Gene in Cultured Human Keratinocytes and Mouse Skin
Adding a specific gene to skin cells can help treat skin disorders like psoriasis.
research Laparoscopic Extirpation of Adrenal Gland Ganglioneuroma Incidentally Diagnosed during Evaluation for Patchy Alopecia Areata in an Adolescent Boy
A boy's hair loss improved after tumor removal and vitamin D treatment, but hair loss returned despite normal vitamin D and no tumor regrowth.
research Hipertricose generalizada exuberante em um lactente: relato de caso
An infant developed excessive hair growth after a bone marrow transplant and cyclosporine treatment.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1
A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
research Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research Vitamin-D3 modulates human hair follicle epithelial progenitor cells in situ and in vitro
research Vitamin D Deficiency, its Relation to Bone, Back Pain, Tiredness and Mood Improving in Adult Sample Collected from Baghdad City
Vitamin D supplements improve bone pain, tiredness, hair loss, and mood, especially in women and older adults.
research Gene expression of type 2 17β hydroxysteroid dehydrogenase in scalp hairs of hirsute women
Hirsute women have lower type 2 17β-HSD enzyme levels, which improve with treatment.
research Serum 25 hydroxyvitamin D in non‐scarring alopecia: A systematic review and meta‐analysis
People with non-scarring hair loss often have lower vitamin D levels than those without hair loss.
research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations
An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
research Vogt-Koyanagi-Harada Disease with Oral Manifestations: A Rare Case Report
VKHD can include rare oral symptoms like discolored teeth.
research Episodic Neuropathic-Like Musculoskeletal Pain Associated With Ritlecitinib Therapy in Alopecia Universalis: A Case Report
Ritlecitinib may cause severe musculoskeletal pain in some alopecia universalis patients.
research Faculty Opinions recommendation of Does D matter? The role of vitamin D in hair disorders and hair follicle cycling.
Vitamin D receptor is key to hair growth, not vitamin D itself.
research The Epidermal Vitamin D System and Innate Immunity: Some More Light Shed on This Unique Photoendocrine System?
Vitamin D made by the skin plays a role in immune defense and skin health, and more research is needed to understand its full effects.
research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research Clinical Pregnancy and Miscarriage Rates in relation to Vitamin D Supplementation among women with Hyper Androgenic PCOS: A prospective study.
More research is needed to confirm if vitamin D helps improve pregnancy rates in women with hyperandrogenic PCOS.
research Effect of Vitamin D Supplementation on Post-COVID-19 Manifestations in Menoufia University Hospitals: A Randomized Controlled Clinical Trial
Vitamin D supplements significantly improved post-COVID-19 symptoms in deficient patients.
research Vitamin D status in scarring and nonscarring alopecia
People with certain types of hair loss, especially lichen planopilaris and telogen effluvium, as well as African Americans, Asians, and men, are more likely to have severe vitamin D deficiency.