Latest Advances

  • Condition: Phenylketonuria
  • Journal: The Cochrane database of systematic reviews
  • Treatment Used: Tyrosine
  • Number of Patients: 56
  • Published —
The study researched the outcomes of tyrosine supplementation for treating phenylketonuria.
  • Condition: Phenylketonuria
  • Journal: Drug metabolism and personalized therapy
  • Treatment Used: Therapeutic Diet
  • Number of Patients: 20
  • Published —
This study evaluated the self-esteem scores in patients with phenylketonuria (protein metabolism disorder; PKU) on therapeutic diets.
  • Condition: Phenylketonuria
  • Journal: The Cochrane database of systematic reviews
  • Treatment Used: Diet
  • Number of Patients: 251
  • Published —
In this study, researchers evaluated the effects of diet on patients with phenylketonuria.
  • Condition: Hypotonia Diagnosis
  • Journal: Annals of clinical and translational neurology
  • Treatment Used: Metabolic Screening
  • Number of Patients: 164
  • Published —
This study investigated the use of metabolic screening to detect developmental delays in infants, likely as a result of hypotonia.
  • Condition: Adult Patients with Phenylketonuria
  • Journal: Nutrients
  • Treatment Used: Large Neutral Amino Acids (LNAAs) Supplementation
  • Number of Patients: 10
  • Published —
The study researched the outcomes of large neutral amino acids (LNAAs) in adults with phenylketonuria.
  • Condition: Multi-enzyme Urea Cycle Disorder in a Newborn
  • Journal: The journal of extra-corporeal technology
  • Treatment Used: Neonatal Extracorporeal Membrane Oxygenation (ECMO)
  • Number of Patients: 1
  • Published —
In this case study, researchers evaluated the outcomes of using neonatal extracorporeal membrane oxygenation (ECMO) to treat the dangerously high level of ammonia in the blood of a newborn with multi-enzyme urea cycle disorder.
  • Condition: Propionic Acidemia or Methylmalonic Acidemia
  • Journal: Advances in therapy
  • Treatment Used: Liver Transplantation
  • Number of Patients: 373
  • Published —
The purpose of the study was to assess post liver transplantation outcomes in patients with propionic acidemia and methylmalonic acidemia.
  • Condition: Hyperammonemia in Pediatric Patients Receiving Continuous Kidney Replacement Therapy (KRT)
  • Journal: Nature reviews. Nephrology
  • Treatment Used: Non-Kidney Replacement Therapy (NKRT) and Kidney Replacement Therapies (KRTs)
  • Number of Patients: 0
  • Published —
This article presents recommendations for the management of hyperammonemia requiring kidney replacement therapy (KRT) in pediatric populations.
  • Condition: Urea Cycle Disorders in Pediatric Patients
  • Journal: AAPS PharmSciTech
  • Treatment Used: Sodium Benzoate
  • Number of Patients: 2
  • Published —
This study evaluated outcomes of oral sodium benzoate treatment for pediatric patients with urea cycle disorders.
  • Condition: Propionic Acidemia
  • Journal: Journal of pediatric gastroenterology and nutrition
  • Treatment Used: Liver Transplant
  • Number of Patients: 0
  • Published —
This study tested the safety and efficacy of using a liver transplant to treat patients with propionic acidemia.
  • Condition: Multiple Acyl-CoA Dehydrogenase Deficiency
  • Journal: Genetics in medicine : official journal of the American College of Medical Genetics
  • Treatment Used: D,L-3-hydroxybutyrate
  • Number of Patients: 23
  • Published —
In this study, researchers evaluated the safety and effectiveness of D,L-3-hydroxybutyrate for the treatment of multiple acyl-CoA dehydrogenase deficiency.
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