research A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
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research Balint’s syndrome—missed or mistaken?
The document concludes that early diagnosis of Balint's syndrome is crucial for effective treatment and that understanding drug interactions, like between ritonavir and statins, is important for patient care.
research Macrocytosis and pseudoalbinism: Manifestations of selenium deficiency
Selenium deficiency can cause skin and hair color loss, muscle weakness, and blood cell changes, but these improve with selenium supplements.
research Luminescence and other photoprocesses in hair follicles in the disorder Trichostasis spinulosa
research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Expression of a truncated form of hHb1 hair keratin in human breast carcinomas
Truncated hHb1 keratin may play a role in breast cancer cell transformation.
research The vitamin B5/coenzyme A axis: A target for immunomodulation?
Vitamin B5 and coenzyme A may help regulate the immune system and could improve treatments for chronic diseases and cancer.
research Diagnosis and treatment of methylmalonic acidemia in 14 cases
Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
research Simultaneous Determination of Selected Steroids with Neuroactive Effects in Human Serum by Ultrahigh-Performance Liquid Chromatography–Tandem Mass Spectrometry
A new method accurately measures nine neuroactive steroids in small blood samples, helping to study brain diseases.
research Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
research Possible biotin deficiency in adults receiving long-term total parenteral nutrition
Biotin deficiency can cause hair loss in adults on long-term TPN, but supplementation helps regrow hair.
research Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice
Methionine restriction works better than betaine for treating CBS deficiency symptoms in mice.
research Localised Skin Hyperpigmentation as a Presenting Symptom of Vitamin B12 Deficiency Complicating Chronic Atrophic Gastritis
Vitamin B12 deficiency can cause skin darkening and other symptoms, which improve with B12 supplements.
research On the Vitamin B Complex Content of the Hair of Normal and Pellagrous Subjects
research Profiling steroid and thyroid hormones with hair analysis in a cohort of women aged 25 to 45 years old
The method can measure multiple hormones in women's hair and may help identify hormone-related health issues.
research Radiologie Aspects of Thallium Poisoning
Thallium poisoning can be identified through radiological signs and treated effectively with B.A.L.
research El teorema del 0,7 o el otro teorema de Pitágoras
A CCS patient with severe complications was successfully treated using combined therapies.
research Determination of Vitamin B3 Vitamer (Nicotinamide) and Vitamin B6 Vitamers in Human Hair Using LC-MS/MS
The method can measure vitamin B3 levels in human hair accurately.
research Hair Cortisol Is a Potential Indicator of Adrenal Insufficiency in Individuals with Sickle Cell Disease
Hair cortisol may help identify adrenal insufficiency in sickle cell disease patients.
research Prospective Controlled Study Evaluating Pull Test with Correlation Serum Iron, Ferritin, Tranferin, Vitamin B12, Folic Acid in Patients with Alopecias in The Czech Republic
Hair health can indicate mental and general health.
research Phenotypic variation in biotinidase deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
research Human epidermal transglutaminase. Preparation and properties.
The enzyme from human skin can cross-link proteins and needs calcium to work.
research The Fate of Trichohyalin
Trichohyalin is modified by enzymes to form strong structures in hair cells.
research Hair standing on end as a manifestation of iron deficiency?
research Biotinidase deficiency – clinching the diagnosis rapidly can make all the difference!
Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
research Sacituzumab Govitecan-Hziy (Trodelvy™)
Trodelvy™ helped some patients with advanced breast cancer, but had side effects.
research The interaction of hydrocortisone and thyroxine during fetal adipose tissue differentiation: CCAAT enhancing binding protein expression and capillary cytodifferentiation.
Glucocorticoids and thyroid hormones together are essential for fetal fat development.
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.