research Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria.
A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
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150-180 / 1000+ resultsresearch Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
research PSAT217 Estrogen Deficiency as a Cause of Decreased 1- alpha - hydroxylase Activity
Estrogen deficiency can reduce the enzyme activity needed to activate vitamin D.
research BAF200 Is Required for Heart Morphogenesis and Coronary Artery Development
BAF200 is essential for proper heart and coronary artery formation.
research IRON DEFICIENCY: AN UNDER-RECOGNIZED PROBLEM IN KIDNEY TRANSPLANTATION. RISKS OF IRON TREATMENT.
Iron deficiency is common in kidney transplant patients, and while iron treatment helps, it can cause high red blood cell levels.
research 34006 Vitamin D deficiency in patients with lichen planopilaris/frontal fibrosing alopecia
Patients with lichen planopilaris/frontal fibrosing alopecia have a higher rate of vitamin D deficiency than the general US population.
research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research Rickets and Alopecia with Resistance to 1,25-Dihydroxyvitamin D: Two Different Clinical Courses with Two Different Cellular Defects*
Patients with this syndrome can have different responses and worsening resistance to treatment over time.
research Iron-Deficiency Anemia During Childhood
Children need early diagnosis and treatment for iron-deficiency anemia to prevent learning problems and promote health.
research Hypopigmented thin scalp hairs association with iron deficiency: report of 2 cases.
research Síndrome dos cabelos anágenos frouxos associada à distrofia macular: descrição de uma família
Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
research Aromatase deficiency in a male patient - Case report and review of the literature.
A male with aromatase deficiency improved bone health with estradiol treatment.
research Predictors of Vitamin D Insufficiency in Children and Adolescents With Alopecia Areata
Children with alopecia areata often have low vitamin D, especially if they have darker skin, it's not summer, or they're not White.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research A RARE CASE OF CHRONIC ACRODERMATITIS ENTEROPATHICA PERSISTING AND RECURRING IN THE ADULT AGE
Chronic Acrodermatitis Enteropathica can persist into adulthood and requires careful zinc treatment.
research Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia
Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
research Zinc deficiency and its management in the pediatric population: A literature review and proposed etiologic classification
Zinc deficiency in children can cause skin issues and can be serious if not diagnosed and treated properly.
research Generalized atrophic benign epidermolysis bullosa.
GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research Anaplasmosis concurrent with copper deficiency in a Salem Black kid
The young goat had anaplasmosis and copper deficiency.
research Trace element status of the patients with alopecia areata
People with alopecia areata have lower blood zinc and iron, and higher hair iron, copper, chromium, and nickel.
research IRON DEFICIENCY ANEMIA: SYMPTOMS, CAUSES AND TREATMENT
Iron deficiency anemia causes fatigue and can be managed with proper care.
research A study on efficacy of oral zinc therapy for treatment of acrodermatitis enteropathica
Oral zinc therapy is effective for treating acrodermatitis enteropathica.
research A Case of Hair Structure Abnormality Associated with Iron Deficiency Anaemia
Iron deficiency can cause hair abnormalities, but taking iron can fix them and stop hair loss.
research Vitamin D deficiency in alopecia areata
Alopecia areata patients often have low vitamin D levels, suggesting they might benefit from vitamin D supplements.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches
New treatments for immune disorders caused by FOXN1 deficiency are promising.
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 ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research Vitamin D status in scarring and nonscarring alopecia
People with certain types of hair loss, especially lichen planopilaris and telogen effluvium, as well as African Americans, Asians, and men, are more likely to have severe vitamin D deficiency.