Results 111 to 120 of about 10,064 (198)

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

Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report. [PDF]

Genes (Basel)
Hanna-Wakim R, Karam PE, Kurban M, Yazbeck N.   +3 more
europepmc   +1 more source

Towards Next-Generation Sequencing as a First-Tier Diagnostic Test for Fructose-1,6-Bisphosphatase Deficiency. [PDF]

Metabolites
Yazbeck N, Barhoumi A, Karam PE.
europepmc   +1 more source

Newborn Screening in Saudi Arabia: Brief History, Current Practice, and Future Direction. [PDF]

Int J Neonatal Screen
Mujamammi AH.
europepmc   +1 more source

Global Use of Casein Glycomacropeptide Protein Substitutes for Phenylketonuria (PKU): Health Professional Perspectives. [PDF]

Nutrients
Evans S, Singh R, Ahring K, Ashmore C, Daly A, Ford S, Gama MI, Giżewska M, Hill M, Ilgaz F, Jackson R, Newby C, Pinto A, Tosi M, Nas OY, Zuvadelli J, MacDonald A.   +16 more
europepmc   +1 more source

Identification of Primary Hyperoxaluria Type III by Gas Chromatography/Mass Spectrometry-Based Urine Metabolomics. [PDF]

Metabolites
Kuhara T, Ohse M, Fukasawa T, Maruyama K, Pitt J.   +4 more
europepmc   +1 more source

From Control to Optimisation: Evolving Strategies in the Nutritional Management of Inborn Errors of Protein Metabolism. [PDF]

J Inherit Metab Dis
Rocha JC, Daly A, MacDonald A.
europepmc   +1 more source

Seeking stability for gene addition in inborn errors of metabolism. [PDF]

Mol Ther Nucleic Acids
von Beck T, Koeberl DD.
europepmc   +1 more source

[The inborn errors of metabolism of amino acids].

Postepy biochemii, 1973
openaire   +1 more source