research Human Epidermal Transglutaminase
The enzyme is crucial for skin cell development and can be activated without proteolytic activation.
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900-930 / 1000+ resultsresearch Porphyria Cutanea Tarda in a Patient With Agnogenic Myeloid Metaplasia
Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
research Acrodermatitis enteropathica – diagnostic challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research Grahams Little Piccardi Lausseur Syndrome - A Rare Case Report with Review of Literature
Early diagnosis of GLPLS is crucial to prevent complications, but scarring alopecia is irreversible.
research Histopathologic Findings of Cutaneous Hyperpigmentation in Addison Disease and Immunostain of the Melanocytic Population
The study found increased skin pigmentation and variable melanocyte density in a patient with Addison's disease.
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 P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Oxidative DNA Damage Accelerates Skin Inflammation in Pristane-Induced Lupus Model
Loss of OGG1 increases skin inflammation and auto-antibodies in lupus.
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 Evaluation of Paraoxonase 1 Serum Level in Male Androgenetic Alopecia Patients
Men with male pattern baldness have lower levels of the antioxidant PON1.
research Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria
Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
research Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
research High-sulfur protein deficient human hair: clinical aspects and biochemical study of two unreported cases of a variant type of trichothiodystrophy
Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
research Biotinidase Enzyme Deficiency ( Case Report )
A rare biotin deficiency in an Iraqi family caused severe symptoms but was successfully treated with lifelong biotin.
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 Viewpoint 3
Oxidative stress plays a significant role in vitiligo, and both skin and non-skin cells may be involved.
research Dermoscopy of Graham–Little–Piccardi–Lassueur Syndrome
Dermoscopy helps diagnose rare GLPLS in males.
research Characterization of Recombinant Human Liver Thermolabile Phenol Sulfotransferase with Minoxidil as the Substrate
Both enzyme forms can sulfate minoxidil.
research Biotinidase deficiency – clinching the diagnosis rapidly can make all the difference!
Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
research Ocular aspects in biotinidase deficiency Clinical and genetic original studies
Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
research Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research Inborn errors of biotin metabolism
Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
research Zone 1 Hepatocellular Necrosis: A Manifestation of Selenium Toxicity?
Excessive selenium intake can cause liver damage.
research Total melanonychia of 20 nails as a rare manifestation of vitamin B12 deficiency
Vitamin B12 deficiency can cause darkening of all nails.
research Partial biotinidase deficiency: Clinical and biochemical features
Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.
research Cutaneous Metabolism of Vitamin B-6
An enzyme other than TNAP might be responsible for vitamin B-6 metabolism in the skin.
research Inborn Errors of Biotin Metabolism
Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.
research 110 Transglutaminase 2 is a potential regulator of sebocyte maturation
Transglutaminase 2 may control sebocyte maturation and lipid metabolism.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.