research Biotinidase deficiency – clinching the diagnosis rapidly can make all the difference!
Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
Search
for
Sort by
Research
150-180 / 1000+ resultsresearch Ocular aspects in biotinidase deficiency Clinical and genetic original studies
Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
research Nonalimental Scurvy With Relapse Symptoms After Stopping Oral Vitamin C Supplementation
A 3-year-old girl developed scurvy symptoms that improved with vitamin C but relapsed when supplementation stopped.
research A Rare Case of Cronkhite-Canada Syndrome
Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
research Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
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 Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research Bleeding tendency with corkscrew hair
Low vitamin C caused bleeding and corkscrew hair, resolved with vitamin C treatment.
research Decreased selenium intake and low plasma selenium concentrations leading to clinical symptoms in a child with propionic acidaemia
Selenium deficiency caused symptoms in a child, which improved with selenium supplements.
research Phenotypic variation in biotinidase deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research Cronkhite-Canada Syndrome (CCS)—A Rare Case Report
Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
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 Cronkhite-Canada syndrome: A rare disease presenting with dermatological and gastrointestinal manifestations
A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
research KNUCKLE HYPERPIGMENTATION AS A PRELIMINARY MARKER OF VITAMIN B 12 DEFICIENCY: A CASE SERIES
Knuckle darkening can be an early sign of vitamin B12 deficiency.
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research Dramatic Clinical Improvement With Biotin Mega‐Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency
Biotin mega-dose therapy led to dramatic improvement in a newborn with a rare metabolic disorder.
research Prevalence of Cobalt in the Environment and Its Role in Biological Processes
Cobalt is important for health but too much or too little can cause health problems, and its environmental buildup is a concern.
research Cronkhite-Canada syndrome: A case report and literature review
Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
research Cronkhite-Canada syndrome associated withmyelodysplastic syndrome
A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
research Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Early detection and biotin treatment improve outcomes for biotinidase deficiency.
research Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
research PSAT330 Excess Iodine Intake From a Cystic Fibrosis Supplement Induces Symptomatic Hypothyroidism
Excessive iodine from a cystic fibrosis supplement can cause hypothyroidism.
research Biotinidase deficiency: a survey of 10 cases.
Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
research Consumption of a low-carbohydrate and high-fat diet (the ketogenic diet) exaggerates biotin deficiency in mice
The ketogenic diet can worsen biotin deficiency, suggesting a need for biotin supplements.
research CANITIES AND ALOPECIA IN CHILDREN ASSOCIATED WITH AVITAMINOSIS
Severe vitamin deficiencies in children can cause significant hair problems.
research Further Observations on Riboflavin as a Food Factor in Economy of Food Utilization
Riboflavin is essential for health and growth, and its deficiency causes serious health issues.
research O02 Ubiquitomics of CYLD-deficient skin tumours reveals dysregulation of hair follicle keratinocyte processes
CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
research Symptomatic zinc deficiency in a full-term breast-fed infant
Zinc supplements and weaning cured a breast-fed baby's zinc deficiency caused by a gene mutation.
research Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency
Biotin supplements can effectively treat hair loss and skin issues in certain enzyme deficiencies.
research PA30 Evaluation of markers of inflammation and oxidative stress in patients with premature canities
Premature canities is linked to low vitamin D and B12, family history, and higher MHR.