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.
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30 / 1000+ resultsresearch Toxic and Metabolic Disorders of the Nervous System
Certain vitamins in wrong amounts, alcohol abuse, metals, and other toxins can cause serious brain and nerve damage.
research Aldesleukin
Aldesleukin can treat certain cancers and increase HIV patient CD4+ counts but often causes severe side effects.
research Acquired Acrodermatitis Enteropathica in an Infant
An infant with a zinc deficiency skin disorder improved with zinc treatment.
research Hair Amino Acids: Normal Values and Results in Metabolic Errors
Hair amino acid levels can indicate metabolic disorders.
research Glossary
research Cutaneous extramedullary haematopoiesis: Implications in human disease and treatment
Skin can produce blood cells, often due to disease, which might lead to new treatments for skin and blood conditions.
research Acrodermatitis enteropathica in the pediatric population: a literature review of real-world studies
Zinc effectively treats most children with acrodermatitis enteropathica, but underlying metabolic issues may require additional management.
research 25-Year-Old Woman With New-Onset Seizures
A woman's new seizures were caused by a brain tumor likely linked to her past cancer treatment, and choosing safe seizure medications is important for women who can have children.
research Diabetes in a Bearded Woman
A woman's diabetes improved after removing ovarian tumors that caused high testosterone levels.
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 Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research Tata Laksana Hipoglikemia pada Pasien Diabetes
Hypoglycemia in diabetes needs quick treatment to prevent serious health issues.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.
research Phénylcétonurie de l’adulte : manifestations neurologiques et modalités évolutives
Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
research PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect
A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
research Novel recombinant human acid α-glucosidase with optimal glycosylation is significantly better than standard of care enzyme replacement for glycogen clearance in skeletal muscles of GAA knock-out mice
research Discovery and Optimization of Novel Pyridines as Highly Potent and Selective Glycogen Synthase Kinase 3 Inhibitors
New pyridine compounds effectively inhibit GSK3, a diabetes treatment target.
research Clinical application of hair protein glycation in the assessment of blood glucose control and diabetic neuropathy.
Hair glycation can indicate long-term blood sugar levels and diabetic nerve issues.
research Late presentation of biotinidase deficiency with acute visual loss and gait disturbance
Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
research Bioconversion, Pharmacokinetics, and Therapeutic Mechanisms of Ginsenoside Compound K and Its Analogues for Treating Metabolic Diseases
Ginsenoside compound K shows promise for treating metabolic diseases like diabetes and obesity.
research Nilotinib-induced generalized keratosis pilaris: Report of a rare case
Nilotinib can cause generalized keratosis pilaris.
research Man made disease: Clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study
Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
research Dramatic Clinical Improvement With Biotin Mega‐Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency
Biotin mega-dose therapy led to dramatic improvement in a newborn with a rare metabolic disorder.
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.
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 P447: Late onset biotinidase deficiency misdiagnosed as neuromyelitis optica: A case report and review of diagnostic challenges
Biotinidase deficiency can mimic neuromyelitis optica and should be considered for accurate diagnosis and treatment.
research Netherton Syndrome Associated with Growth Hormone Deficiency
Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
research Phenotypic variation in biotinidase deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research [Determining the time of diabetes mellitus onset by the level of glycosylated keratin in hair].
Glycosylated keratin levels in hair can help identify the onset of insulin-dependent diabetes.