research Inborn errors of biotin metabolism
Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
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research Treatment of Cystathionine β-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector
MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
research Beta thalassemia revealing hypothyroidism: A case report
Frequent blood transfusions in beta thalassemia patients can lead to thyroid problems.
research Inborn Errors of Biotin Metabolism
Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.
research Beta thalassemia revealing hypothyroidism: A case report
Frequent blood transfusions in beta thalassemia can lead to thyroid problems.
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 Biotin deficiency complicating parenteral alimentation: Diagnosis, metabolic repercussions, and treatment
Biotin deficiency in patients on total parenteral nutrition can cause serious symptoms but can be treated with biotin supplements.
research Characterization of Recombinant Human Liver Thermolabile Phenol Sulfotransferase with Minoxidil as the Substrate
Both enzyme forms can sulfate minoxidil.
research Reversible hypopigmentation of hair secondary to Vitamin B12 deficiency
Vitamin B12 deficiency can cause reversible hair color loss in children.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research How Biotin Induces Misleading Results in Thyroid Bioassays: Case Series
Taking biotin supplements can cause incorrect thyroid test results, leading to wrong diagnoses.
research Reversible Hyperpigmentation: A Diagnostic Dilemma
Vitamin B12 deficiency can cause reversible skin darkening.
research Ayurvedic Management Of Vitamin B12 Deficiency-A Case Study
Ayurvedic treatment improved Vitamin B12 levels and symptoms.
research Bleeding tendency with corkscrew hair
Low vitamin C caused bleeding and corkscrew hair, resolved with vitamin C treatment.
research The effect of dietary modulation of sulfur amino acids on cystathionine β synthase–deficient mice
Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
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 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 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 A comprehensive investigation of biochemical status in patients with telogen effluvium: Analysis of Hb, ferritin, vitamin B12 , vitamin D, thyroid function tests, zinc, copper, biotin, and selenium levels
Telogen effluvium is linked to deficiencies in iron, vitamin B12, and thyroid function.
research P.1.g.012 Neurocognition in patients with bipolar type I disorder in remission: relation between vitamin B12 and folic acid
research Kinetic Studies with Transglutaminases
Transglutaminases work through a ping-pong mechanism, and human plasma and platelet transglutaminases have similar catalytic subunits.
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 Management of “hyperandrogenism” confounded by dermatology biotin prescriptions
Biotin can interfere with lab tests, causing misdiagnosis.
research Hair loss from scalp among women: Does serum levels of iron, cobalamin and folic acid matter?
Low ferritin and cobalamin levels are better indicators of chronic hair loss in reproductive-age women than hemoglobin levels.
research 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 Rethinking biotin therapy for hair, nail, and skin disorders
Biotin supplements are not proven to improve hair or nails and may interfere with medical tests.
research L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
research Editorial Board
Biotin is important for metabolism, with specific daily intake recommendations, and deficiency can cause health problems.
research Ocular aspects in biotinidase deficiency Clinical and genetic original studies
Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
research COMPARAÇÃO ENTRE HPLC E IMUNOTURBIDIMETRIA PARA DOSAGEM DE HEMOGLOBINA GLICADA (A1C) COMO CRITÉRIO DIAGNÓSTICO DE DIABETES MELLITUS
HPLC may detect prediabetes and diabetes earlier than Immunoturbidimetry because it shows higher A1c levels.