research Partial Biotinidase Deficiency: Clinical and Biochemical Features
Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.
Search
for
Sort by
Research
30 / 1000+ results
research Biotin-Responsive Alopecia and Developmental Regression
Biotin treatment can significantly improve hair loss and motor functions in certain metabolic disorders.
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 Gomez-Lopez-Hernandez Syndrome: Another Consideration in Focal Congenital Alopecia
Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
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 A Rare Case of Biotinidase Deficiency
An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
research Biotinidase Deficiency: A Survey of 10 Cases
Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
research Bachmann–Bupp Syndrome and Treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research Biotinidase Enzyme Deficiency: Case Report
A rare biotin deficiency in an Iraqi family caused severe symptoms but was successfully treated with lifelong biotin.
research Novel De Novo Pathogenic Variant in the ODC1 Gene in a Girl with Developmental Delay, Alopecia, and Dysmorphic Features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Biotin Deficiency in an Infant Fed with Amino Acid Formula and Hypoallergenic Rice
Biotin should be added to Japanese amino acid formula to prevent deficiency.
research Acute Hepatitis and Pancytopenia in a Child With Chronic Abuse of Senna
A child's chronic use of Senna caused liver damage and a severe decrease in blood cells, but improved after stopping Senna and getting treatment.
research Pellagroid Dermatitis During a Ketogenic Diet and Anti-Epileptic Therapy
A boy on a ketogenic diet and anti-epileptic drugs developed skin issues due to stopping vitamin supplements, which improved with proper supplementation.
research Phenotypic Variation in Biotinidase Deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research Characterization of a Partial cDNA for Lysyl Hydroxylase from Human Skin Fibroblasts; Lysyl Hydroxylase mRNAs Are Regulated Differently by Minoxidil Derivatives and Hydralazine
Minoxidil decreases LH expression, while hydralazine has mixed effects on prolyl and lysyl hydroxylase activities.
research Dermatological Manifestations of Down's Syndrome
People with Down's syndrome often have more skin problems due to a weak immune system.
research Clinical Case Notes: Tamoxifen Optic Neuropathy
A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
research Clinical Case Notes: Intraorbital Ophthalmic Artery Aneurysms
Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
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 Testosterone Replacement in 49,XXXXY Syndrome: Andrological, Metabolic, and Neurological Aspects
Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
research Clinical Case Notes: Propecia-Associated Bilateral Cataract
Taking Propecia might lead to the development of cataracts.
research Clinical Case Notes: Castleman's Disease of the Lacrimal Gland
The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.
research Clinical Case Notes: Malignant Melanoma in Eviscerated Eyeball
Finasteride, often used for hair loss, can potentially cause cataracts.
research Clinical Case Notes: Retinoblastoma, Microphthalmia, and Chromosome 13q Deletion Syndrome
The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
research Clinical Case Notes: Optical Coherence Tomography of Adult-Onset Foveomacular Vitelliform Dystrophy
Multiple eye conditions were studied, highlighting the importance of various imaging methods for diagnosis, the vision side effects of drugs tamoxifen and Propecia, and the usefulness of optical coherence tomography for diagnosing and monitoring macular and retinal diseases.
research Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels
The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
research Nonfebrile Seizures in Pediatrics: Key Points to Remember
Early diagnosis and treatment of hereditary vitamin D-resistant rickets (HVDRR) are crucial to prevent growth issues and other health problems.
research Eruptive Syringomas in Down’s Syndrome
People with Down's syndrome are more likely to have syringomas.
research British Society for Pediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Overweight and Obesity in Children and Adolescents
Childhood obesity is rising globally due to various factors, and early prevention and healthy lifestyle changes are crucial.