Results 151 to 160 of about 2,214,124 (236)

Timely Diagnosis of Cobalamin C Disease via Rapid Genome Sequencing in a Neonate With Severe Prenatally Detected Biventricular Dysfunction. [PDF]

Case Rep Crit Care
Furuta Y, Walkin SN, Ward SK, Tinker RJ, Hamid R, Phillips JA, Harris RE, Cassini TA.   +7 more
europepmc   +1 more source

Emerging Quantitative Targeted Metabolomics Approaches for Future Inborn Errors of Metabolism Screening. [PDF]

Diagnostics (Basel)
Osman SA, Malki A, Al-Sulaiti H, Al-Dirbashi OY, Elrayess MA.   +4 more
europepmc   +1 more source

Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate. [PDF]

Neuropediatrics
Brands MM, de Puyraimond C, Gospe SM, Schiff MM, Jaeger B, Koot BG, Raphael MF, Lubout CM, Soto B, Delanne J, Imbard A, Zempel J, Kraal KC, Scheenstra R, Clayton PT.   +14 more
europepmc   +1 more source

Lipidomic Signatures in Pediatric Metabolic Disorders. [PDF]

Metabolites
Narvaez-Rivas M, Setchell KDR.
europepmc   +1 more source

TFRC Germline Variants and Inborn Error of Immunity: Mechanistic Insights into Iron-Immune Crosstalk. [PDF]

J Clin Immunol
Aljohani AH.
europepmc   +1 more source

Therapeutic Advances in Major NBIA Disorders: Current Strategies and Translational Challenges. [PDF]

Neurol Int
Cascone F, Gasparini G, Tiranti V, Di Meo I.   +3 more
europepmc   +1 more source

Dietary Inflammatory Index and Nutritional Status in Children with Inborn Errors of Metabolism on Protein-Restricted Diets. [PDF]

Nutrients
Aktaş E, Çiçek B, Okur I, İnci A, Tümer L.   +4 more
europepmc   +1 more source

Modeling Tay-Sachs Disease in Astrocyte-like Cells Reveals Significant Changes in the Transcriptomic Profile. [PDF]

Int J Mol Sci
Suárez-García DA, Espejo-Mojica AJ, Alméciga-Díaz CJ.   +2 more
europepmc   +1 more source

Current status in paediatric liver transplantation for inherited metabolic diseases. [PDF]

J Pediatr Gastroenterol Nutr
Hadzic N, Dionisi-Vici C, Vara R.
europepmc   +1 more source

Mitochondrial HMG-CoA Synthase Deficiency Presenting as Pediatric Metabolic Stroke: A Case Report of a Novel Homozygous HMGCS2 (p.Ile56Asn) Variant. [PDF]

Clin Case Rep
Alshami Y, Hroub O, Hroub M, Abouodeh S, Makhamre Z, Hammouri AG, Alzatari I, Atawneh O.   +7 more
europepmc   +1 more source