research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.
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research Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
research Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Early detection and biotin treatment improve outcomes for biotinidase deficiency.
research Skin Hyperpigmentation and Increased Angiogenesis Secondary to Vitamin B12 Deficiency in a Young Vegetarian Woman
Vitamin B12 deficiency can cause skin darkening and increased blood vessels, but treatment can improve symptoms.
research Monilethrix with Acitretin
Acitretin improved monilethrix symptoms temporarily, but they returned after stopping treatment.
research Vitamin B12 Malabsorption: The Pathophysiological Impacts on Neurological and Hair Physiology
Vitamin B12 is crucial for hair and nerve health, and its malabsorption can cause hair loss and nerve damage.
research G367(P) A chubby child: is this a sign of health or malnutrition?
A chubby child can still be malnourished.
research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research Phénylcétonurie de l’adulte : manifestations neurologiques et modalités évolutives
Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
research Reversible Facial Hyperpigmentation Associated With Vitamin B12 Deficiency
Vitamin B12 deficiency can cause facial dark spots that go away with treatment.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Biotinidase Deficiency and Seizures
Biotinidase deficiency can cause symptoms like sleepiness, hair loss, and seizures.
research Rabson-Mendenhall syndrome: two case reports and a brief review of the literature
The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
research Madarosis from mitochondriopathy
Mitochondriopathy may cause eyelash loss.
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Pellagra and anorexia nervosa: a case report
A woman with anorexia nervosa improved after treatment for pellagra, reminding doctors to check for this deficiency in patients with eating disorders.
research Reversible hyperpigmentation of skin and nails with white hair due to vitamin B12 deficiency
Vitamin B12 deficiency can cause skin and hair color changes, which can be reversed with treatment.
research Porphyria Cutanea Tarda in a Patient With Agnogenic Myeloid Metaplasia
Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
research Acrodermatitis enteropathica – diagnostic challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Congenital Zinc Deficiency from Mutations of theSLC39A4Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
research ASSOCIATION OF VITAMIN B12 DEFICIENCY AND MUCO-CUTANEOUS FINDINGS IN DERMATOLOGY: A CASE-CONTROL STUDY
Vitamin B12 deficiency is linked to hair loss and skin pigmentation changes.
research Methionine Dependence of Hair Maintenance in C57BL/6 Mice
Methionine is essential for hair maintenance in C57BL/6 mice.
research The effect of DNMTs and MBPs on hypomethylation in systemic lupus erythematosus
Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.
research Morphologische und biochemische untersuchungen am Haar bei gestörtem Aminosäurestoffwechsel
Metabolic disorders can cause hair structure defects and growth issues, but amino acid levels in hair remain normal.
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 What Syndrome Is This?
Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
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 A 12‐year‐old boy with petechiae, arthralgias, and muscle weakness
The boy's scurvy symptoms improved with vitamin C treatment, highlighting the need for a balanced diet.