research Isotretinoin-unresponsive acne as a sign of a congenital disorder: a case of 21-hydroxylase deficiency
Acne not improved by usual treatments may indicate a genetic disorder.
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180-210 / 1000+ results research An Analysis of Ultrastructure of the Hair of Children Treated With Valproic Acid
Valproic acid may cause temporary hair changes like loss or thinning in children.
research Valproic acid (Depakene). A new anticonvulsant agent
Valproic acid is an effective seizure medication with some temporary side effects.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
research Congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis: a case report with 7-year follow-up
Early intervention and protective measures are crucial for managing CIPA due to the lack of pain and standard treatment.
research GAPO syndrome – Report of a rare case and review
GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
research Very-long-chain Acyl-CoA Synthetases
Very-long-chain acyl-CoA synthetases and fatty acid transport proteins play key roles in fatty acid metabolism and lipid processing in different tissues.
research New drugs: Agalsidase alfa
Agalsidase alfa helps treat Fabry's disease but needs more research for long-term benefits.
research Increased dipicolinic acid production with an enhanced spoVF operon in Bacillus subtilis and medium optimization
Genetically modifying a bacteria and changing its growth conditions significantly increased the production of a chemical called dipicolinic acid.
research Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
Reduced matriptase activity causes skin and hair issues in both humans and mice.
research Exome analysis for Cronkhite-Canada syndrome: A case report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
research Asymptomatic hyperprolactinemia resulting from macroprolactemia
Some patients with high prolactin levels don't show symptoms because they have a form of the hormone that's less active.
research Morphologische und biochemische untersuchungen am Haar bei gestörtem Aminosäurestoffwechsel
Metabolic disorders can cause hair structure defects and growth issues, but amino acid levels in hair remain normal.
research Acute pancreatitis: An unusual presentation of systemic lupus erythematosus
Early diagnosis and aggressive treatment are crucial for managing SLE-related pancreatitis in children.
research Biotinidase deficiency: a survey of 10 cases.
Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
research In vivo and in vitro exposure to free fatty acids induce increased androgen production in animal models: a potential pathogenic factor of the polycystic ovary syndrome
Free fatty acids may increase androgen production, potentially contributing to polycystic ovary syndrome.
research Identification of novel mutation in theHRgene responsible for atrichia with papular lesions in a Pakistani family
Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
research [Valproic acid, curly hair and weight gain].
Valproic acid can cause weight gain and hair texture changes.
research Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
Airway issues can occur in Conradi–Hünermann–Happle syndrome and can be managed with minimally invasive procedures.
research Pattern of tissue invasion by Propionibacterium acnes in acne vulgaris
The document concludes that advanced methods show the presence of P. acnes in acne lesions but do not prove it causes acne.
research Table 2_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica in infants.
research Harmony in Healing: Investigating Platelet-Rich Plasma Activation during Acetylsalicylic Acid Treatment
Acetylsalicylic acid affects platelet-rich plasma activation, requiring personalized approaches for effective treatment.
research Pure linoleate deficiency in the rat: influence on growth, accumulation of n-6 polyunsaturates, and [1-14C]linoleate oxidation
Linoleate deficiency in rats reduces growth and n-6 polyunsaturate accumulation, causing mild symptoms.
research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
research Table 1_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica effectively.
research Autosomal recessive congenital ichthyosis due to PNPLA 1 mutation in a golden retriever–poodle cross‐bred dog and the effect of topical therapy
Long-term oral and topical treatments improved skin condition in a goldendoodle with a genetic disorder.
research Pernicious anemia in a patient with Type 1 diabetes mellitus and alopecia areata universalis
Patients with Type 1 diabetes should be screened for pernicious anemia.
research Valproic acid in childhood epilepsy: anticonvulsive efficacy in relation to its plasma levels.
Valproic acid is effective for controlling seizures in children, especially as a single treatment, with some side effects.
research Acrodermatitis enteropathica: Case report analyses of zinc metabolism electron microscopic examination and immune function
Zinc supplements effectively treat acrodermatitis enteropathica.
research Hepatic Adenoma in an Adolescent With Elevated Androgen Levels
A teenage girl with high androgen levels and PCOS developed a rare liver tumor, suggesting a possible link between high androgens and the tumor's growth.