research Possible involvement of partial biotinidase deficiency in alopecia areata
Biotin supplements may help hair regrowth in some alopecia areata patients.
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330-360 / 1000+ resultsresearch 41761 Alpha-gal Syndrome for the Dermatologist
Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Association of Human Beta – Defensin 1 Gene Polymorphisms with Alopecia Areata Patients
Certain gene variations may increase the risk and severity of alopecia areata.
research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research Two Hydroxyproline Galactosyltransferases, GALT5 and GALT2, Function in Arabinogalactan-Protein Glycosylation, Growth and Development in Arabidopsis
GALT5 and GALT2 are important for plant growth and development because they help with protein glycosylation.
research Biotin deficiency in an infant fed with amino acid formula and hypoallergenic rice
Biotin should be added to Japanese amino acid formula to prevent deficiency.
research Biotinidase deficiency characterized by skin and hair findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research An adolescent girl presenting with primary amenorrhea: A case report of complete androgen insensitivity syndrome
A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
research Combined Alopecia Areata and Acquired Hypertrichosis Lanuginosa in Celiac Disease- A Rarest Phenomenon
A rare combination of hair loss and excessive fine hair growth was found in celiac disease patients.
research Cystathionine β‐synthase‐deficient mice thrive on a low‐methionine diet
Mice with CBS deficiency are healthier on a low-methionine diet.
research Serum Preptin and Amylin Levels with Respect to Body Mass Index in Polycystic Ovary Syndrome Patients
Women with PCOS have lower amylin levels, which are not related to their body weight.
research Failure of Fresh Plasma in Leiner Disease
Fresh plasma transfusions did not help treat Leiner disease in an infant.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
A specific gene mutation causes complete hair loss in an Irish Traveller family.
research Possible involvement of partial biotinidase deficiency in alopecia areata
Biotin supplements may help hair regrowth in alopecia areata patients with low biotinidase activity.
research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria
Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
research Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation
Cathepsin L deficiency causes hair and skin issues in mice.
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 Metabolic disease with autoimmune phenomena: 2 cases of SLE-like disease in young children diagnosed with lysinuric protein intolerance
Two children with lysinuric protein intolerance showed symptoms similar to lupus.
research Activated Polyamine Catabolism Depletes Acetyl-CoA Pools and Suppresses Prostate Tumor Growth in TRAMP Mice
Overexpressing SSAT enzyme reduces prostate tumor growth in mice.
research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research Hair changes due to zinc deficiency in a case of sucrose malabsorption
Zinc supplements improved the girl's hair growth and thickness.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research A functional study of a case of glucagonoma exhibiting typical glucagonoma syndrome
A pancreatic tumor caused high glucagon levels and symptoms, but treatment reduced glucagon and shrank liver tumors.