research Rickets With Alopecia: An Inborn Error of Vitamin D Metabolism
Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.
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30 / 374 resultsresearch 1,25-Dihydroxyvitamin D Resistance, Rickets, and Alopecia
A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.
research Rickets and Alopecia with Resistance to 1,25-Dihydroxyvitamin D: Two Different Clinical Courses with Two Different Cellular Defects
Patients with this syndrome can have different responses and worsening resistance to treatment over time.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research A Human Vitamin D Receptor Mutation Causes Rickets and Impaired Th1/Th17 Responses
A vitamin D receptor mutation causes rickets and affects immune responses.
research Clinical and Genetic Findings in a Chinese Family with VDR-Associated Hereditary Vitamin D-Resistant Rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Hereditary Vitamin D Rickets: A Case Series in a Family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research Rickets with Alopecia: Remission Following a Course of 1-Alpha-Hydroxy Vitamin D3 Therapy
Child with rickets improved with a specific vitamin D therapy, but alopecia did not change.
research Rickets with Alopecia Signals Vitamin D Dependent Rickets Type II
A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.
research Alopecia With Vitamin D-Dependent Rickets Type 2A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research Vitamin D Dependent Rickets Type 2: A Case-Based Review of a Patient With Alopecia and Rickets
A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.
research A Rare Case of Vitamin D Dependent Rickets Type II: A Case Report
A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
research Mutations in the Vitamin D Receptor and Hereditary Vitamin D-Resistant Rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research Vitamin D Resistant Rickets With Alopecia: A Form of End Organ Resistance to 1,25 Dihydroxy Vitamin D
A girl with rickets and hair loss was found to have a rare condition where her body didn't respond to vitamin D treatment.
research Vitamin D-Dependent Rickets Type II: Extreme End Organ Resistance to 1,25-Dihydroxy Vitamin D3 in a Patient Without Alopecia
A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
A specific gene mutation causes vitamin D-resistant rickets and hair loss.
research Two Siblings With Vitamin-D-Dependent Rickets Type II: No Recurrence Of Rickets For 14 Years After Cessation Of Therapy
Two siblings stayed rickets-free for 14 years after stopping treatment.
research Hereditary Vitamin D-Resistant Rickets (HVDRR) Owing to a Heterozygous Mutation in the Vitamin D Receptor
research Vitamin D-Dependent Rickets Type II with Alopecia: Two Case Reports and Review of the Literature
Vitamin D-dependent rickets Type II causes bone problems and hair loss, and doesn't improve with Vitamin D treatment.
research Vitamin D-Dependent Rickets Type II with Alopecia: A Rare Case Report
A 4-year-old boy with a rare type of rickets and hair loss improved in bone health but not hair growth after vitamin D and calcium treatment.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research Functional Analysis of VDR Gene Mutation R343H in a Child with Vitamin D-Resistant Rickets with Alopecia
The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of Two Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Hereditary Vitamin D-Resistant Rickets in Lebanese Patients: The p.R391S and p.H397P Variants Have Different Phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Alopecia in Vitamin D-Dependent Rickets Type II Responding to 1α-Hydroxycholecalciferol
A boy's hair loss and bone issues improved with specific vitamin D treatment and calcium.
research Characterization of Type II Rickets Model Rats to Reveal Functions of Vitamin D and Vitamin D Receptor
The research showed that Vitamin D and its receptor are important for healthy bones and normal hair and skin in rats.
research Vitamin D-Dependent Rickets Type II
A 3-year-old with vitamin D-resistant rickets and severe hair loss died despite treatment, highlighting the need for improved management of the condition.
research Gene Therapy for Alopecia in Type II Rickets Model Rats Using Vitamin D Receptor-Expressing Adenovirus Vector
Gene therapy with a vitamin D receptor gene improved hair growth in rats with a type of rickets-related baldness.
research An Unusual Presentation of Vitamin D Dependent Rickets Type 2 with Low 25(OH)D3 Levels and Alopecia: A Case Report of Two Siblings
Two siblings with a rare type of rickets and hair loss had low vitamin D levels, which is not typical for their condition.