Results 131 to 140 of about 10,064 (198)

Excluded GM-specific IgG Subclass Genes in Health and Disease - Inborn Errors of Immunity. [PDF]

J Clin Immunol
Oxelius VA.
europepmc   +1 more source

A Four-Year Prospective Pilot Study of Newborn Screening for Late-Onset Proximal Urea-Cycle Disorders in Hyogo Prefecture in Japan. [PDF]

Int J Neonatal Screen
Lee T, Matsui M, Yokoyama Y, Bo R, Awano H, Kataoka D, Ueda M, Minato T, Kobayashi H, Hasegawa Y, Murayama K, Takeshima Y.   +11 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]

Cureus
Al Shafouri N, Khalid M, Al Muqarshi A, Al Hatmi J.   +3 more
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 Dis
Nasri M, Mahdieh N, Abbasi F, Mohsenipour R, Abdolahpour S.   +4 more
europepmc   +1 more source

Evaluation of GlcNAc-Configured Glycomimetics as Pharmacological Chaperones of NAGLU for the Treatment of Mucopolysaccharidosis IIIB. [PDF]

Biomolecules
Ballout N, Désiré J, Espejo-Mojica AJ, Niño-Traslaviña K, Sandoval D, Alméciga-Díaz CJ, Blériot Y, Ausseil J.   +7 more
europepmc   +1 more source

Untargeted Metabolomic Study for Urinary Characterization of Adult Patients with Phenylketonuria. [PDF]

Int J Mol Sci
Gonzalez-Rodriguez A, Barrau-Martinez B, Pané A, López Galera RM, Tobias E, Montserrat-Carbonell C, Guitart-Mampel M, Jáuregui O, Roca-Vives R, Garcia-Villoria J, Milisenda JC, Matas-Garcia A, Forga Visa MT, Moreno Lozano PJ, Garrabou G, Urpi-Sarda M, Llorach R, Consortium PKU.cat.   +17 more
europepmc   +1 more source

Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other

Metabolites, 2022
In inborn errors of metabolism, such as amino acid breakdown disorders, loss of function mutations in metabolic enzymes within the catabolism pathway lead to an accumulation of the catabolic intermediate that is the substrate of the mutated enzyme.
, Kim Dohoon
exaly   +3 more sources