research Biotinidase deficiency – clinching the diagnosis rapidly can make all the difference!
Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
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research Vitamin D status in polycystic ovary syndrome
People with polycystic ovary syndrome often have low levels of vitamin D.
research An investigation of vitamin D status in alopecia areata
People with alopecia areata often have lower vitamin D levels and more inflammation, suggesting vitamin D might be involved in the condition.
research The role of vitamin D deficiency in parathyroid hormone levels
Low vitamin D levels can lead to increased parathyroid hormone levels.
research Diffuse hair loss in Addison disease: A reason for X-linked adrenoleukodystrophy screening
Men with Addison disease should be screened for X-linked adrenoleukodystrophy if they have hair loss.
research ACUTE ZINC DEPLETION SYNDROME DURING PARENTERAL HYPERALIMENTATION
A patient with zinc depletion improved after zinc supplementation during parenteral nutrition.
research Cystathionine β‐synthase‐deficient mice thrive on a low‐methionine diet
Mice with CBS deficiency are healthier on a low-methionine diet.
research Ocular Manifestations in Avitaminosis
Vitamin A deficiency can cause eye problems and other health issues.
research Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
research Micronutrient status in patients receiving home parenteral nutrition
One-third of patients on home nutrition had micronutrient deficiencies, with iron deficiency being most common, but serious issues were rare.
research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research Reversible Facial Hyperpigmentation Associated With Vitamin B12 Deficiency
Vitamin B12 deficiency can cause facial dark spots that go away with treatment.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research The combined use of intravenous and oral calcium for the treatment of vitamin D dependent rickets type II (VDDRII)
Intravenous and oral calcium effectively treated vitamin D dependent rickets type II, improving growth and bone health.
research #1697882 "A" Vitamin to Consider: Refractory Hypercalcemia from Vitamin A Toxicity
Vitamin A toxicity can cause serious health issues like hypercalcemia and is often overlooked.
research Serum 25-Hydroxy-Vitamin D and Vitamin B12 Levels in Childhood Alopesia Areata
Children with Alopecia Areata often have lower vitamin D and B12 levels and higher thyroid activity.
research Late presentation of biotinidase deficiency with acute visual loss and gait disturbance
Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
research Nutritional Dermatoses in Rats
Nutritional deficiencies in rats cause skin problems that can be treated with the right vitamins.
research Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
research Clinical Case Notes. Lipoid proteinosis: a rare disorder with pathognomonic lid lesions
A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
research Selective complete Clq deficiency associated with systemic lupus erythematosus.
Clq deficiency is linked to systemic lupus erythematosus symptoms.
research Keratosis pilaris with adjacent haemosiderin deposition: a clue to scurvy
A man's skin condition and poor diet led to a scurvy diagnosis.
research Biotinidase deficiency characterized by skin and hair findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
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 Acquired Zinc Deficiency
Long-term parenteral nutrition without zinc can cause severe zinc deficiency.
research Reversible hyperpigmentation of skin and nails with white hair due to vitamin B12 deficiency
Vitamin B12 deficiency can cause skin and hair color changes, which can be reversed with treatment.
research Reversible cutaneous hyperpigmentation and nails with white hair due to vitamin B12 deficiency.
Vitamin B12 deficiency can cause skin darkening and white hair, but it's reversible.
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 Newborn screening for biotinidase deficiency: pilot study and follow-up of identified cases
Newborn screening for biotinidase deficiency is effective in preventing severe complications.
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.