research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
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research Self-Amplifying RNA Approach for Protein Replacement Therapy
Self-amplifying RNA could be a better option for protein replacement therapy with lower doses and lasting effects, but delivering it into cells is still challenging.
research Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
research ACUTE ZINC DEPLETION SYNDROME DURING PARENTERAL HYPERALIMENTATION
A patient with zinc depletion improved after zinc supplementation during parenteral nutrition.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research Pili torti in association with citrullinemia
A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Taste disorders and alopecia in myasthenia gravis
Clinicians should recognize taste disorders and hair loss as important symptoms in myasthenia gravis patients.
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 Undifferentiated connective tissue disease presenting with vascular pattern of renal amyloidosis with carpel tunnel syndrome: A case report
A woman with undifferentiated connective tissue disease was diagnosed with renal amyloidosis and carpal tunnel syndrome.
research [The Netherton syndrome with alopecia and prolinuria].
Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
research Secondary Amenorrhea in a 15-year-old Girl
A 15-year-old girl with missed periods was diagnosed with a pituitary disorder and treated with hormones and steroids.
research Total melanonychia of 20 nails as a rare manifestation of vitamin B12 deficiency
Vitamin B12 deficiency can cause darkening of all nails.
research Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
research SWEET SYNDROME: AN UNUSUAL PRESENTATION OF CHRONIC GRANULOMATOUS DISEASE IN A CHILD
A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
research GREASY SCALING PITYRIASIS AMIANTACEA AND ALOPECIA: A SYNDROME IN SEARCH OF A CAUSE
The cause of the syndrome with scalp scaling and hair loss is unknown.
research Delayed hair cycle in mnd2 mutant mice lacking HtrA2 serine protease activity
HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
research Multiple Myeloma–Associated Amyloidosis Presenting With Acrolocalized Acquired Cutis Laxa
A man with rare skin changes on his fingers was diagnosed with multiple myeloma-linked amyloidosis.
research Woodhouse-Sakati syndrome (WSS)
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research Ugreelig hår
A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
research Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings
Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
research Biotin and biotinidase deficiency
Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
research KRASG12D mutant cells are outcompeted by wild type neighbours in adult pancreas in an EPHA2-dependent manner
Normal cells outcompete and remove mutant cells in the pancreas with the help of the EphA2 receptor.
research A Rare Case of Cronkhite-Canada Syndrome
Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
research Whitaker syndrome: A case report of autoimmune polyendocrine syndrome type 1 with dilated cardiomyopathy
Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research Amyloid associated alopecia: A case report and review of the literature
Amyloid proteins can cause rare hair loss by depositing in the scalp.
research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.