35 citations
,
August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
19 citations
,
February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
3 citations
,
April 2002 in “The American Journal of Medicine” The document concludes that early diagnosis of Balint's syndrome is crucial for effective treatment and that understanding drug interactions, like between ritonavir and statins, is important for patient care.
March 2023 in “Mağallaẗ wāsit li-l-ʿulūm wa-al-ṭibb” A rare biotin deficiency in an Iraqi family caused severe symptoms but was successfully treated with lifelong biotin.
35 citations
,
October 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
8 citations
,
November 2009 in “The Neurologist/The neurologist” If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
August 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
Diphenyl cresyl phosphate has low toxicity but can harm the liver, kidneys, adrenal glands, and testicles at high doses.
October 2016 in “Journal of Dermatological Science” A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
October 2016 in “Journal of Dermatological Science” Golden oyster mushroom extract may protect skin cells from aging by its antioxidant properties.
October 2016 in “Journal of Dermatological Science” The protein aPKCλ is crucial for keeping hair follicle stem cells inactive and for hair growth and regeneration.
7 citations
,
August 2006 in “Experimental Neurology” Finasteride blocks deoxycorticosterone's anticonvulsant effects in infant rats, but indomethacin doesn't.
26 citations
,
February 2009 in “Drug Development Research” 17α-estradiol is a safe estrogen that might protect the brain and doesn't cause feminization, needing more research for treating brain diseases.
18 citations
,
January 2007 in “Clinical dysmorphology” A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
17 citations
,
August 2001 in “Australasian journal of dermatology” A woman's liver problems improved after she stopped taking spironolactone.
4 citations
,
October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
4 citations
,
August 2001 in “Epilepsia” Treating epilepsy is complex, requiring careful drug choice and patient adherence to manage seizures and side effects.
1 citations
,
August 2021 in “Canadian journal of neurological sciences” Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
February 2024 in “Curēus” Topical 5-Fluorouracil can rarely cause nerve damage, especially in people with a certain genetic deficiency.
January 2016 in “Springer eBooks” A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
January 1978 in “Clin-Alert” A document listed serious side effects from various drugs, including deaths and diseases, emphasizing the importance of being aware of drug side effects.
1308 citations
,
March 1998 in “Journal of bone and mineral research” The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
260 citations
,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
247 citations
,
August 2011 in “European Journal of Epidemiology” The Rotterdam Study updated its design and objectives in 2012, providing insights into various diseases in the elderly, including skin cancer, bone health, liver disease, neurological and psychiatric conditions, and respiratory issues.
186 citations
,
July 1998 in “Journal of Cutaneous Medicine and Surgery” Shorter CAG repeats may cause hair and skin issues, while longer ones may link to acne.
155 citations
,
August 1991 in “Journal of The American Academy of Dermatology” Methotrexate treats various disorders by inhibiting DNA synthesis, but careful monitoring is needed to avoid toxicity and manage side effects.
150 citations
,
April 2013 in “Dermato-endocrinology” Estrogen therapy can reduce skin aging but has cancer risks.
137 citations
,
March 2006 in “Cns Drug Reviews” Finasteride treats enlarged prostate and hair loss, but may cause side effects in some patients.
134 citations
,
June 2005 in “Neuropsychopharmacology” GABRA2 gene variations impact alcohol response, and hair loss medication finasteride reduces some effects.
126 citations
,
January 1987 in “Journal of The American Academy of Dermatology” The document concludes that understanding hair structure is key to diagnosing hair abnormalities and recommends gentle hair care for management.