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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180-210 / 1000+ resultsresearch Biotinidase deficiency: a survey of 10 cases.
Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
research MON-194 A Case Of Sertoli Cell Tumor In A Patient With Familial Partial Lipodystrophy Type 2
A rare ovarian tumor was found in a young woman with a genetic fat disorder.
research Presence of hyperandrogenemia in cases evaluated due to menstrual irregularity, the effect of clinical and/or biochemical hyperandrogenemia on polycystic ovary syndrome
Elevated testosterone, DHEA-S, and FAI help identify PCOS risk in menstrual irregularities.
research Presentation, diagnosis, and management options of lipedematous alopecia
Lipedematous alopecia involves a thickened scalp and hair loss, with limited effective treatments available.
research Inflammatory markers and Lp(a) levels as cardiovascular risk factors in androgenetic alopecia
AGA patients have higher heart disease risk.
research Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
research A Study on The Proportion/Hospital Based Prevalance of Non-Alcoholic Fatty Liver Disease (NAFLD) in Diagnosed Cases of Polycystic Ovarian Syndrome (PCOS) Seen in A Tertiary Care Centre of Bihar
NAFLD is common in women with PCOS and may signal metabolic syndrome.
research Hutchinson-Gilford Progeria Syndrome: Premature Aging
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
research Untargeted metabolomic approach to study the serum metabolites in women with polycystic ovary syndrome
Certain metabolites may help diagnose and predict polycystic ovary syndrome.
research Chronic Pancreatitis and Persistent Steatorrhea: What Is the Correct Dose of Enzymes?
Enzyme doses for chronic pancreatitis should match meal size, not patient size.
research Association between androgenetic alopecia and hyperlipidemia: a comparative study
People with androgenetic alopecia may have higher cholesterol and triglycerides, suggesting a higher risk of heart disease.
research Unchanged androgen-binding properties of sex hormone-binding globulin in male patients with liver cirrhosis
SHBG binding properties are unchanged in male liver cirrhosis 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 Increased retinol‐binding protein (RBP) 4 and anti‐RBP4 antibody in alopecia areata
People with alopecia areata have higher levels of RBP4 protein and antibodies against it.
research Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
research Women’s Health Considerations for Lipid Management
The conclusion is that managing cholesterol is important for women, especially during pregnancy, breastfeeding, and with PCOS, and involves regular screening and careful treatment choices.
research Localized Primary Cutaneous Nodular Amyloidosis in a Patient With Paraproteinemia
An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.
research Expression of 11β-hydroxysteroid dehydrogenase type 1 in visceral and subcutaneous adipose tissues of patients with polycystic ovary syndrome is associated with adiposity
Increased HSD11B1 enzyme expression is linked to higher body fat and insulin resistance.
research Concurrent hepatitis B and autoimmune hepatitis a rare presentation of acute liver failure: a case report
A young woman recovered well from rare simultaneous Hepatitis B and autoimmune hepatitis after treatment.
research Severity of Androgenetic Alopecia and its Association with Serum Lipid Levels: A Case Control Study from a Tertiary Care Center
Men with androgenetic alopecia may have higher cholesterol and triglycerides.
research Bilateral Burning Palmoplantar Lesions
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
research Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation
A patient with a rare hair condition and skin disorder showed hair improvement after treatment.
research BH03 Lipoedematous scalp occurring in two female siblings: further evidence of a genetic role?
Two sisters with lipoedematous scalp suggest a genetic influence in the condition.
research Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria
Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
research UHPLC/Q-TOFMS-based plasma metabolomics of polycystic ovary syndrome patients with and without insulin resistance
The research found different metabolism changes in PCOS patients and suggested new potential markers for diagnosing PCOS with or without insulin resistance.
research Phenotypic variation in biotinidase deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research A Case of Sheehan Syndrome Presenting with Pancytopenia and Dilated Cardiomyopathy: A Rare Combination
A woman with Sheehan syndrome improved with hormone treatment.
research Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their relation with hyperuricemia and hypercholesterolemia in Mexican young adults
A specific gene variation increases the risk of high uric acid and cholesterol in young Mexican males.
research Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome
Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.