research Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks
Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
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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.
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 Delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old male patient: a case report.
A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
research [Two cases of the rare Cronkhite-Canada syndrome].
Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
research Cronkhite-Canada Syndrome (CCS)—A Rare Case Report
Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
research Atualização em Coriorretinopatia Serosa Central
CSC is linked to mineralocorticoid receptor damage, stress, and steroid use, with treatments including drugs and laser therapies to prevent eye damage.
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 Pseudoglucagonoma Syndrome Following Frey’s Surgery: A Case Report of a Rare Presentation
Improved nutrition quickly healed the patient's skin lesions.
research Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Clinical case of Vogt–Koyanagi–Harada syndrome
Early treatment with corticosteroids improved her eye condition significantly.
research Multiple and Recurrent Ocular Manifestations in a Patient of Vogt-Koyanagi-Harada Syndrome
Young patients with Vogt-Koyanagi-Harada syndrome may have poor vision outcomes despite treatment due to frequent recurrences.
research A 32‐year‐old woman with arthralgias and severe hypotension
Aggressive immunosuppressive treatment improved a woman's severe heart condition linked to autoimmune disease.
research Deletion of adipocyte Sine Oculis Homeobox Homolog 1 prevents lipolysis and attenuates skin fibrosis
Removing SIX1 in fat cells reduces skin fibrosis.
research Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
research The Clinical Features and Outcomes of Systemic Lupus Erythematosus in Ageing Patients
SLE in ageing patients is less severe and needs careful treatment to avoid excess.
research Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research 41761 Alpha-gal Syndrome for the Dermatologist
Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.
research Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure
Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
research Late Onset Systemic Lupus Erythematosus - Clinical and Autoantibody Profile and its Comparison with Young Onset Systemic Lupus Erythematosus
Late onset SLE has different symptoms and antibody profiles compared to young onset SLE.
research An Unusual Case of Diarrhea, Dysgeusia, and Grainy and Nodular Mucosa
A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
research A Case of Cronkhite-Canada Syndrome Presenting with Hematochezia
Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
research Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype
Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
research A VISUAL JOURNEY THROUGH SYSTEMIC LUPUS ERYTHEMATOSUS
The project highlights the importance of early diagnosis and patient advocacy in managing Systemic Lupus Erythematosus.
research S2608 A Rare Case of Iron Deficiency Anemia: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
research Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
research Vitiligo-like depigmentation with perifollicular pigment retention in systemic sclerosis treated successfully with suplatast tosilate
Suplatast tosilate successfully treated a woman's systemic sclerosis symptoms.
research Ischemic Vaso-occlusive Retinopathy as Initial Presentation in Pediatric Systemic Lupus Erythematosus: A Case Report
Early treatment of pediatric lupus-related eye issues is crucial to prevent vision loss.
research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research Connective Tissue Disorders
Different connective tissue disorders have unique symptoms and treatments, with varying outcomes and often require ongoing care from a specialist.