research CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
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30-60 / 1000+ resultsresearch Selective complete Clq deficiency associated with systemic lupus erythematosus.
Clq deficiency is linked to systemic lupus erythematosus symptoms.
research Cisd2 deficiency impairs neutrophil function by regulating calcium homeostasis via Calnexin and SERCA
Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
research P144 Vitamin C deficiency in inflammatory bowel disease: the forgotten micronutrient
Many people with inflammatory bowel disease have a vitamin C deficiency, which can lead to scurvy symptoms.
research SCURVY PRESENTING WITH CUTANEOUS AND ARTICULAR SIGNS AND DECREASE IN RED AND WHITE BLOOD CELLS
Vitamin C is essential to prevent scurvy and its symptoms.
research The influence of vitamin C deficiency on dermatosis in neonatal dairy calves
Vitamin C deficiency causes severe skin problems in newborn dairy calves.
research PSAT330 Excess Iodine Intake From a Cystic Fibrosis Supplement Induces Symptomatic Hypothyroidism
Excessive iodine from a cystic fibrosis supplement can cause hypothyroidism.
research Corkscrew hairs
The woman has scurvy and needs more vitamin C.
research A 12‐year‐old boy with petechiae, arthralgias, and muscle weakness
The boy's scurvy symptoms improved with vitamin C treatment, highlighting the need for a balanced diet.
research HAIR DEPIGMENTATION AND DERMATITIS – AN UNEXPECTED PRESENTATION OF CYSTIC FIBROSIS
Cystic fibrosis can cause unusual symptoms like hair color changes, which can improve with proper treatment.
research Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
research Bleeding tendency with corkscrew hair
Low vitamin C caused bleeding and corkscrew hair, resolved with vitamin C treatment.
research 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research Micronutrient deficiency in menstrual dysfunction among women of reproductive age
Women with menstrual dysfunction often have deficiencies in magnesium, iron, and vitamin D.
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research General adverse response to cyclophosphamide in Chinese patients with systemic autoimmune diseases in recent decade — a single-center retrospective study
Cyclophosphamide often causes gastrointestinal issues, hair loss, and low blood cell counts in Chinese patients with autoimmune diseases.
research A 14-Year-Old Boy with Lower Extremity Swelling and Petechial Rash
The boy's symptoms improved with vitamin C treatment, highlighting the need to consider scurvy in kids with unusual diets.
research Investigation and Treatment of Iodine Deficiency in a Buffalo Calf
Early diagnosis and treatment of iodine deficiency in buffalo calves is crucial for their healthy growth.
research 236 Wnt/planar cell polarity impairment and the genetics of yellow nail syndrome
Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
research LB1020 Scurvy: A forgotten illness?
Scurvy still occurs today and can be diagnosed by symptoms like gum bleeding and a specific rash, confirmed by low vitamin C levels.
research Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production
Lack of a key enzyme causes severe skin issues and death in mice.
research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research THE EFFECT OF ZINC AND COPPER DEFICIENCY ON HEMATOLOGICAL PARAMETERS, OXIDATIVE STRESS AND ANTIOXIDANTS LEVELS IN THE SHEEP.
Zinc and copper deficiency harms sheep health and normal body functions.
research Hematological, biochemical, and antioxidant status in sheep with skin disorders suffering from zinc, copper, and vitamin A deficiencies
Zinc, copper, and vitamin A deficiencies cause skin disorders in sheep.
research Impaired turnover of autophagolysosomes in cathepsin L deficiency
Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Persistent scurvy after vitamin C supplementation in a high-risk patient: a case report
Vitamin C deficiency can persist in high-risk patients despite supplementation.
research To Demonstrate the Role of Iron, Vitamin B12, and Vitamin D in Young Females with Chronic Telogen Effluvium Attending the Tertiary Care Centre of Jharkhand
Low iron and vitamin D are common in young females with hair loss.