research New drugs: Agalsidase alfa
Agalsidase alfa helps treat Fabry's disease but needs more research for long-term benefits.
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570-600 / 1000+ results research Diagnosis and treatment of methylmalonic acidemia in 14 cases
Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research #3665 Glyoxylic acid induce crystalline nephropathy and hair-straightening products: a case report
Hair-straightening products with glyoxylic acid can cause kidney damage.
research Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency
A special diet can fix hair problems in argininosuccinase deficiency.
research L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
research Colorimetric assay for γ-glutamyl transpeptidase
The document concludes that measuring γ-glutamyl transpeptidase activity is more accurate with a higher substrate concentration and using diluted acetic acid to stop the reaction.
research Artemisia argyi Ameliorates Nonalcoholic Steatohepatitis by Modulating Fibrosis-Related Factors and Gut Microbiota
KeraGLO improves skin and hair health.
research Cutaneous manifestations of methylmalonic and propionic acidaemia: a description based on 38 cases
Some children with methylmalonic and propionic acidaemias have skin problems related to their condition and diet.
research A dramatic case of diabetic gustatory hyperhidrosis successfully treated with topical glycopyrrolate
Topical glycopyrrolate lotion helped reduce excessive sweating from eating in a diabetic man.
research Inhibition of 3‐methylcrotonyl‐CoA carboxylase explains the increased excretion of 3‐hydroxyisovaleric acid in valproate‐treated patients
Valproic acid treatment increases a specific acid in urine by blocking an enzyme, possibly causing skin rash and hair loss.
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 S2594 Autoimmune Hepatitis Due to Para-Aminobenzoic Acid
Para-aminobenzoic acid in hair supplements can cause autoimmune hepatitis.
research Сечова кислота в житті чоловіка
High uric acid can cause health problems, but lifestyle changes can help manage it.
research Acrodermatitis Enteropathica‐like Eruption in an Infant with Nonketotic Hyperglycinemia
A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
research Acrodermatitis dysmetabolica in an infant with maple syrup urine disease
Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
research Methylmalonic Acidemia: Can Treatment be Improved?
Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.
research Liver transplantation for propionic acidemia in children
Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
research Trans glutaminase-mediated cross-linking in mammalian epidermis
research Acrodermatitis Dysmetabolica with Concomitant Acquired Acrodermatitis Enteropathica in a Patient with Maple Syrup Urine Disease
MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
research 18β‐Glycyrrhetinic acid: its core biological properties and dermatological applications
18β-glycyrrhetinic acid from licorice root is good for skin and hair treatments but has absorption challenges.
research When Beauty Turns Toxic: Acute Contact Dermatitis and Kidney Injury Following Hair Straightening
Hair straightening products with glyoxylic acid can cause skin irritation and kidney damage.
research Formaldehyde replacement with glyoxylic acid in semipermanent hair straightening: a new and multidisciplinary investigation
Glyoxylic acid is a safer alternative to formaldehyde for hair straightening and effectively changes hair structure.
research Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks
Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
research TREATMENT OF VALPROATE‐INDUCED HYPERAMMONEMIA
Stopping valproate and using lactulose can quickly treat valproate-induced hyperammonemia.
research Extraction of Gallic Acid and Ferulic Acid for Application in Hair Supplements
Gallic acid and ferulic acid can be sustainably extracted for hair supplements with high efficiency and stability.
research The occurrence of the ε-(γ-glutamyl)lysine cross-link in the medulla of hair and quill
research Exogenous Alpha-Ketoglutaric Acid Alleviates the Rabbit Dermal Papilla Cell Oxidative Damage Caused by Hydrogen Peroxide Through the ERK/Nrf2 Signaling Pathway
Alpha-ketoglutarate protects rabbit skin cells from oxidative damage by activating a specific cell pathway.
research Efficacy of Glycyrrhetinic Acid in the Treatment of Acne Vulgaris Based on Network Pharmacology and Experimental Validation
Glycyrrhetinic acid from licorice may help treat acne by reducing inflammation and oil production.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.