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300-330 / 1000+ resultsresearch Newborn screening for biotinidase deficiency: pilot study and follow-up of identified cases
Newborn screening for biotinidase deficiency is effective in preventing severe complications.
research 5 alpha-reductase-2 gene mutations in the Dominican Republic.
Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
research [Netherton's syndrome in two sisters].
Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
research Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay
A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
research Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
research SYNTHESIS OF INOSITOL IN MICE
Mice need pantothenic acid to make inositol.
research Crystalluria with sulphadiazine
Sulphadiazine can cause crystals to form in urine.
research Transport of Niosomal Aminexil through Whole Abdominal Skin of Rats
New niosomal formulation effectively delivers aminexil through rat skin.
research 5175 A Rare Case of Type B Insulin Resistance Syndrome
Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.
research N-Acyl arylsulfonamides as novel, reversible inhibitors of human steroid sulfatase
Scientists found new, better-working inhibitors for a hormone-related enzyme.
research Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications
Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
research Rheumatoid arthritis and gouty arthritis in an adult patient with Down's syndrome
A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
research Recalcitrant lichen planopilaris treated with upadacitinib: a case series
Upadacitinib may effectively treat resistant lichen planopilaris.
research Man made disease: Clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study
Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
research A liquid chromatography/tandem mass spectrometry method for determination of aristolochic acid‐I in rat plasma
A reliable method was developed to measure aristolochic acid-I in rat blood.
research Alopecia areata. How not to miss S atoyoshi syndrome?
Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.
research Inhibition of Inflammatory Gene Expression in Keratinocytes Using a Composition Containing Carnitine, Thioctic Acid and Saw Palmetto Extract
The composition with carnitine, thioctic acid, and saw palmetto extract may effectively reduce inflammation in hair follicle cells.
research SCAR DUE TO SULFUR MUSTARD GAS ON THIGH WITH CHERRYANGIOMAS, DECREASED HAIR GROWTH AND PIGMENTARYDISORDER: A CASE REPORT
research BH02 Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with the AIRE gene mutation treated with ruxolitinib
Ruxolitinib helped a woman with a genetic mutation regrow her hair and improved her health.
research https://researchopenworld.com/genetics-of-hidradenitis-suppurativa/#
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research Effect of acidifier on performance and serum biochemical indices in fur ring minks
1.5% lactic acid improved mink growth and health best.
research 865 Single-cell protein activity inference analysis of full-thickness skin uncovers novel pathways and a rare Arg1+ macrophage population in AA
Arg1+ macrophages may play a role in Alopecia Areata, offering new treatment targets.
research Azathioprine-induced Agranulocytosis and Severe Alopecia After Kidney Transplantation Associated With a NUDT15 Polymorphism: A Case Report
A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.
research Impending central retinal vein occlusion and granulomatous uveitis in a patient with Satoyoshi syndrome
Satoyoshi syndrome can cause eye problems like uveitis and retinal vein issues.
research Image 3_Associations between ionomic profile and metabolic abnormalities in a murine model of sodium sulfide induced alopecia areata.tif
Linoleic acid and magnesium are key in alopecia areata progression, and tofacitinib can help by affecting their pathway.
research Generalized pruritus in primary sclerosing cholangitis: implications of histamine release by lysophosphatidic acid
A certain medication improved severe itching in a boy with liver and bowel disease by reducing histamine levels, suggesting a new treatment target.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Chronic tophaceous gout secondary to self-induced vomiting in anorexia nervosa
A woman with anorexia developed gout from self-induced vomiting.