Perioperative management of pediatric patients with inborn errors of metabolism during liver transplantation. [PDF]
World J TransplantPaulin S +4 more
europepmc +1 more source
Mental Reterdation in Inborn Errors of Amino Acid Metabolism
Eiyo To Shokuryo, 1976 Keiya TADA +3 more
openaire +2 more sources
Whole exome sequencing in pediatric hyperammonemia: significant diagnostic yield and identification of three novel variants. [PDF]
BMC Med GenomicsHajati R +3 more
europepmc +1 more source
Excluded GM-specific IgG Subclass Genes in Health and Disease - Inborn Errors of Immunity. [PDF]
J Clin ImmunolOxelius VA.
europepmc +1 more source
Identification of a novel ACADSB variant for the presymptomatic diagnosis of 2-Methylbutyryl-CoA dehydrogenase deficiency through newborn screening in Iran. [PDF]
Orphanet J Rare DisNasri M +4 more
europepmc +1 more source
Severe Cow's Milk Allergy Presenting With Life-Threatening Metabolic Acidosis in an Extremely Preterm Infant: A Case Report. [PDF]
CureusAl Shafouri N +3 more
europepmc +1 more source
Isobutyryl-coenzyme a dehydrogenase deficiency: disease, or non-disease? [PDF]
Orphanet J Rare DisSantacruz Reyes MD, Sass JO.
europepmc +1 more source
Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies. [PDF]
J Clin MedShakerdi AL +3 more
europepmc +1 more source
Impact of a Transition Clinic on Long-Term Care and Nutritional Management in Patients with Inborn Errors of Metabolism. [PDF]
NutrientsDíaz-López EJ +11 more
europepmc +1 more source