research Vitamin C Deficiency-Induced Pulmonary Arterial Hypertension
Vitamin C supplementation can resolve pulmonary arterial hypertension caused by vitamin C deficiency.
Search
for
Sort by
Research
180-210 / 1000+ resultsresearch 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 Vitamin D and the Parenteral Nutrition Patient
Vitamin D is crucial for bone health and preventing serious diseases.
research Dapsone Therapy for Pustular Psoriasis: Case Series and Review of the Literature
Dapsone improved pustular psoriasis in patients who didn't respond to other treatments and is considered a well-tolerated option.
research Equine Cushings Disease - PPID
Equine Cushing's disease in horses causes hormonal imbalance, leading to symptoms like abnormal hair growth and requires lifelong treatment with pergolide.
research Deimination in epidermal barrier and hair formation
Enzymes that change arginine to citrulline are important for skin barrier and hair formation, and their malfunction can lead to skin conditions and hair disorders.
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.
research Genotypic and Phenotypic Study of PDCD4 gene Concerning micro RNA-21 and micro RNA-449b Polymorphism in Breast Cancer
PDCD4 protein levels, affected by genetics and breastfeeding, may predict breast cancer treatment response.
research IRON DEFICIENCY ANEMIA: EPIDEMIOLOGY, PATHOGENESIS, CLINICAL MANIFESTATIONS, AND MODERN TREATMENT APPROACHES
Iron deficiency anemia is common and treated with iron supplements and diet changes.
research IRON DEFICIENCY ANEMIA: EPIDEMIOLOGY, PATHOGENESIS, CLINICAL MANIFESTATIONS, AND MODERN TREATMENT APPROACHES
Iron deficiency anemia is common and treated with iron supplements and diet changes.
research Erosive pustular dermatosis (chronic atrophic dermatosis of the scalp and extremities)
Erosive pustular dermatosis is a rare skin disease that's hard to treat and affects the scalp or legs.
research Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
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 THE EFFECT OF REPLENISHMENT OF IRON STORES AFTER PHLEBOTOMY THERAPY IN PORPHYRIA CUTANEA TARDA
Replenishing iron after phlebotomy can cause relapse in porphyria cutanea tarda.
research Fibrosing Alopecia in a Pattern Distribution (FAPD) in 16 African-Descent and Hispanic Female Patients: A Challenging Diagnosis
FAPD is a possible diagnosis for hair loss in patients of color and requires multiple evaluations for accurate diagnosis.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development
Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Hair metal dysregulation in Parkinson’s disease: Implications for diagnosis and gut-brain axis involvement
Hair metal analysis may help diagnose Parkinson's disease and suggests gut involvement.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Whitaker syndrome: A case report of autoimmune polyendocrine syndrome type 1 with dilated cardiomyopathy
Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
research [Time and level of response of plasma, liver bone, leachable and stable hair fractions to copper deficiency and loading in the rat (author's transl)].
Copper deficiency lowers blood and liver copper levels in rats, but not in hair or bones.
research 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
research Assessment of Zinc Deficiency and Nutritional Status among Pregnant Women from District Mardan, KP Pakistan
Many pregnant women in District Mardan have nutritional deficiencies, especially low zinc and hemoglobin levels, and need better diets and more exercise.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research A reasonable Response to Diphensiprone in Pediatric Alopecia Patient: A Case Report
Topical diphencyprone effectively treated a 9-year-old boy's alopecia areata with fewer side effects.
research MANIFESTATION OF ZINC DEFICIT IN KARACHI PAKISTAN; A CROSS SECTIONAL STUDY
Many in Karachi have zinc deficiency symptoms but lack awareness of zinc's importance.