research AMINOPTERIN IN TREATMENT OF LEUKEMIA IN CHILDREN
Aminopterin was somewhat effective in acute lymphoblastic leukemia in children but did not increase survival time.
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450-480 / 1000+ results research Constipation With AMA and ANA Positivity as an Atypical Manifestation of Celiac Disease: A Case Report
A strict gluten-free diet can improve liver issues in celiac disease.
research Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological Diseases
Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
research Ugreelig hår
A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
research A Case of Acrodermatitis Enteropathica
Acrodermatitis Enteropathica is a rare skin condition treated effectively with zinc supplements, and early diagnosis is key.
research Unique amino acid signatures that are evolutionarily conserved distinguish simple-type, epidermal and hair keratins
Different keratin types have unique amino acid patterns that are evolutionarily conserved.
research Decision letter: Structural basis of malodour precursor transport in the human axilla
The study identified a key protein involved in producing underarm odor and found ways to inhibit it.
research STUDY ON EXTRACTION OF L-CYSTINE BY ACID-HYDROLYSIS OF HAIRS
research The HAIR-AN syndrome : a case report
Treatment improved symptoms in a woman with HAIR-AN syndrome.
research Hyperammonemia with Valproic Acid: Colonic Ischemia Associated with “Triptan” Use Visual Side Effects with Pegylated Interferon: Alopecia Areata with Infliximab: Adverse Effects Seen with Medications Used for Irritable Bowel Syndrome
Certain medications can cause serious side effects, so it's important to report them.
research Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism
A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
research Alkaline ceramidase 1 is essential for mammalian skin homeostasis and regulating whole‐body energy expenditure
Alkaline ceramidase 1 is crucial for healthy skin and energy balance.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
A specific gene mutation causes vitamin D-resistant rickets and hair loss.
research Alopecia in laboratory animals induced by a polyampholyte, polyethylene alanine
Polyethylene alanine caused hair loss in young lab animals but not in adults, with hair regrowth occurring within 20 days.
research Biochemical changes and liver tissue pathology in weanling Wistar albino rats with protein-energy malnutrition (PEM).
Low protein diets cause severe health issues in rats, but high protein diets can reverse these effects.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
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 Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research Long-Term Treatment with Sodium Valproate
Combining sodium valproate with other epilepsy drugs increases ammonia levels and side effects.
research Diagnosis by Hair Sample:A Rare Case of Netherton Syndrome in a 2-Year-Old Girl
Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research Not always “straight ahead” – A surprising cause of acute kidney injury
Hair straightening treatments can cause serious kidney damage, especially if you have skin issues.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
research Synthesis of a new amino acid derivative with long‐lasting hair shape control effects and elucidation of its mechanisms
A new amino acid derivative, ATS, improves hair texture and moisture, making it easier to straighten curly hair.
research Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report
A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
research MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of primary amenorrhea and female delayed puberty
Primary amenorrhea and delayed puberty in females can be diagnosed and managed effectively.