research Recurrent pruritic polymorphic lesions associated with weight loss
A man with itchy skin lesions and weight loss was diagnosed with a rare skin condition linked to a pancreatic tumor.
Search
for
Sort by
Research
30 / 1000+ results research Neuroendokrine paraneoplastische Syndrome
Neuroendocrine paraneoplastic syndromes often show skin changes, helping early diagnosis and requiring a team approach for best care.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.
research Hair Amino Acids: Normal Values and Results in Metabolic Errors
Hair amino acid levels can indicate metabolic disorders.
research Acrodermatitis Enteropathica‐like Eruption in an Infant with Nonketotic Hyperglycinemia
A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
research Hipoalbuminemia: Patofisiologi dan Tata Laksana
Low blood albumin often signals disease-related stress, not poor nutrition, and requires treating the cause and possibly supplementing albumin.
research Diagnosis and treatment of methylmalonic acidemia in 14 cases
Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
research Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease
A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
research Morphologische und biochemische untersuchungen am Haar bei gestörtem Aminosäurestoffwechsel
Metabolic disorders can cause hair structure defects and growth issues, but amino acid levels in hair remain normal.
research Acrodermatitis dysmetabolica in an infant with maple syrup urine disease
Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
research Acrodermatitis Dysmetabolica with Concomitant Acquired Acrodermatitis Enteropathica in a Patient with Maple Syrup Urine Disease
MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
research AMINOGENIC ALOPECIA LOSS OF HAIR ASSOCIATED WITH ARGININOSUCCINIC ACIDURIA
Argininosuccinic aciduria can cause hair loss.
research Hyperammonemic encephalopathy without hepatic dysfunction due to treatment with valproate: four cases and a mini review
Valproate can cause brain swelling with high ammonia levels, possibly underreported, especially in psychiatric patients.
research Persistent Hypoglycemia and Macrosomia in a Newborn
A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.
research Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency
A special diet can fix hair problems in argininosuccinase deficiency.
research The First Case of Extensive Metastatic Pancreatic Mixed Acinar-neuroendocrine Carcinoma(MANEC) in a Cat
A cat had a rare, aggressive pancreatic cancer that spread quickly and led to its death.
research Pseudoglucagonoma Syndrome Following Frey’s Surgery: A Case Report of a Rare Presentation
Improved nutrition quickly healed the patient's skin lesions.
research Methylmalonic Acidemia: Can Treatment be Improved?
Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.
research Isolated Amylase Deficiency as a Cause of Failure to Thrive
Isolated amylase deficiency can cause failure to thrive and should be checked with specific tests.
research Necrolytic Migratory Erythema in a Cat with Glucagonoma Syndrome
A cat with a rare pancreatic tumor and diabetes died despite treatment, showing similar symptoms to a human condition.
research Cutaneous manifestations of methylmalonic and propionic acidaemia: a description based on 38 cases
Some children with methylmalonic and propionic acidaemias have skin problems related to their condition and diet.
research Widespread erythematous scaly eruption in an infant with phenylketonuria
Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research TREATMENT OF VALPROATE‐INDUCED HYPERAMMONEMIA
Stopping valproate and using lactulose can quickly treat valproate-induced hyperammonemia.
research S2594 Autoimmune Hepatitis Due to Para-Aminobenzoic Acid
Para-aminobenzoic acid in hair supplements can cause autoimmune hepatitis.
research Cavitating Osmotic Demyelination Syndrome Following Correction of Chronic Hyponatremia in Sheehan’s Syndrome: A Novel Case Report
Careful management of chronic hyponatremia is crucial to prevent severe neurological issues.
research Tata Laksana Hipoglikemia pada Pasien Diabetes
Hypoglycemia in diabetes needs quick treatment to prevent serious health issues.
research Amino Acid Content of Damaged Human Hair
High temperatures and certain chemicals can significantly change the amino acid content in human hair.