research Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
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540-570 / 1000+ results research Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria
research A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis
A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
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 66-Year-Old Woman With Painless Vesicular Lesions
A 66-year-old woman with skin lesions and other symptoms improved after treatment for porphyria cutanea tarda.
research Reversible Hyperpigmentation: A Diagnostic Dilemma
Vitamin B12 deficiency can cause reversible skin darkening.
research Methionine Dependence of Hair Maintenance in C57BL/6 Mice
Methionine is essential for hair maintenance in C57BL/6 mice.
research Null Mutation of 5α-Reductase Type I Gene Alters Ethanol Consumption Patterns in a Sex-Dependent Manner
research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
research Clinical case of manifestation of toxic keratitis with vitamin A intoxication
Excessive vitamin A intake can cause eye damage, but recovery is possible with proper treatment.
research Effects of Molybdenum and Sulfate Sulfur on Metabolism of Copper in Dairy Cattle
High molybdenum and sulfate sulfur levels can cause health issues in cattle, but adding copper helps.
research 199 Impairment of notch 1 signaling is a common defect in lesions from patients with hidradenitis suppurativa
Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
research Simultaneous RP-HPLC-DAD determination of dansyl amino acids in chemically treated human hair
A new method accurately measures amino acids in treated hair, showing bleaching reduces amino acids while protein treatments increase them.
research Late presentation of biotinidase deficiency with acute visual loss and gait disturbance
Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Steroid 17-Hydroxyprogesterone in Hair Is a Potential Long-Term Biomarker of Androgen Control in Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Measuring 17-hydroxyprogesterone in hair can help monitor androgen levels in people with congenital adrenal hyperplasia.
research Biotinidase deficiency – clinching the diagnosis rapidly can make all the difference!
Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
research [Low dosage retinol and L-cystine combination improve alopecia of the diffuse type following long-term oral administration].
Retinol and L-cystine improve diffuse hair loss without side effects.
research Reversible Hyperpigmentation of Skin and Nails With White Hair due to Vitamin B12 Deficiency
Vitamin B12 deficiency can cause skin and hair color changes, which are reversible with treatment.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
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 The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep
The hr gene is linked to hair loss in Valle del Belice sheep.
research Assessment of copper and zinc status in hair and urine of young women descendants of NIDDM parents
Young women with diabetic parents have high zinc and low copper levels.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
research Index of Suspicion
Early diagnosis and treatment are crucial for complex medical conditions.
research 69-Year-Old Man With Nasal Congestion and Pre-Syncope
A 69-year-old man with sinus infection and fainting spells was diagnosed with a rare kidney disease, treated with steroids and a specific drug, which improved his condition.
research Hair Loss and Polyposis in Cronkhite-Canada Syndrome
Prednisone treatment helped a woman with Cronkhite-Canada syndrome recover from hair loss and digestive issues.
research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy
The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.