research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
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180-210 / 1000+ resultsresearch Iatrogenic Cushing's Syndrome in a Patient With Salt-Wasting Congenital Adrenal Hyperplasia (SWCAH)
A patient with congenital adrenal hyperplasia improved after adjusting her medication to prevent Cushing's syndrome symptoms.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Selective inhibition of glucuronidation and sulfation in vitro and in vivo
research El teorema del 0,7 o el otro teorema de Pitágoras
A CCS patient with severe complications was successfully treated using combined therapies.
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 A Rare Case of Biotinidase Deficiancy
An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
research Cronkhite-Canada syndrome: A case report and literature review
Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
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 Uncombable hair syndrome: Observations on response to biotin and occurrence in siblings with ectodermal dysplasia
Biotin improved hair growth and combability in one child with uncombable hair syndrome.
research A Clinical Approach to Severe Insulin Resistance
Severe insulin resistance can be managed with medication, lifestyle changes, and treatment for related conditions.
research P144 Vitamin C deficiency in inflammatory bowel disease: the forgotten micronutrient
Many people with inflammatory bowel disease have a vitamin C deficiency, which can lead to scurvy symptoms.
research Cronkhite–Canada Syndrome Diagnosis in the Absence of Gastrointestinal Polyps
Cronkhite-Canada syndrome can be diagnosed without gastrointestinal polyps if there is severe mucosal atrophy and edema.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research MON-369 Treatment of Nonclassic 11-Hydroxylase Deficiency with "Hair, Skin, and Nails," an Over-the-Counter, Insulin Sensitizing Vitamin/Mineral Supplement
An over-the-counter vitamin/mineral supplement improved hair loss and blood sugar control in a woman with non-classic 11-hydroxylase deficiency.
research Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
research Pseudoglucagonoma syndrome secondary to pancreatitis: A case report
A young woman with skin issues and weight loss improved after treating her pancreatitis and using skin treatments.
research Celiac Disease and Treatment of Hypothyroidism: An Unappreciated Problem
Celiac disease can cause thyroid medication malabsorption, and a gluten-free diet can help stabilize thyroid levels.
research Acrodermatitis enteropathica‐like skin eruption with neonatal seizures in a child with biotinidase deficiency
Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
research Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings
Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research PENERAPAN ASUHAN KEPERAWATAN PADA PASIEN NY “D” DENGAN DIABETES MELITUS TIPE 2 DALAM PEMENUHAN KEBUTUHAN NUTRISI DI RSUD LABUANG BAJI MAKASSAR
Nutritional care and education improved blood glucose control and nutrition in a Type 2 Diabetes patient.
research Familial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response to Biotin
Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.
research Encephalocraniocutaneous lipomatosis: congenital alopecia treatment in a rare neurocutaneous syndrome
A girl with a rare syndrome had successful hair loss treatment with no relapse after 4 years.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Dermatologic Manifestations in Patients with Metabolic Syndrome in Brazil
Most people with metabolic syndrome in Brazil have skin issues, especially if they are morbidly obese.
research Satoyoshi Syndrome: A Cause of Alopecia Universalis in Association with Neurologic and Bony Abnormalities
Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.
research Screening for Abnormal Glucose Metabolism in Adolescents with Polycystic Ovary Syndrome (PCOS)
Teens with PCOS have a higher risk of type 2 diabetes and need regular glucose checks.
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 Uncombable hair in a case of Zellweger syndrome – A new association
Uncombable hair syndrome is linked to Zellweger syndrome.