Results 231 to 240 of about 2,729,552 (357)

Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism [PDF]

, 2003
Carmen Stromberger, Olaf A. Bodamer, Sylvia Stöckler‐Ipsiroglu   +2 more
openalex   +1 more source

[Epilepsy and inborn errors of metabolism]. [PDF]

Rev Neurol
Moya-López S, Ruiz-Colodrero A, Sainz-García J, Fariña-Jara V, García-Jiménez MC, Castejón-Ponce E, López-Pisón J, Pérez-Delgado R.   +7 more
europepmc   +1 more source

Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes. [PDF]

Orphanet J Rare Dis, 2023
Guo Y, Jiang J, Xu Z.
europepmc   +1 more source

An overview of insulin therapy for the non‐specialist

Diabetes, Obesity and Metabolism, EarlyView.
Abstract Nearly all health professionals, whatever their practice or speciality, now have contact with a significant number of insulin‐using people with diabetes. People with type 1 diabetes are nearly universally managed on more complex insulin regimens, increasingly with complex support technology, and with some understanding of the concepts ...
Philip D. Home
wiley   +1 more source

AminoApp: The First Brazilian Application for Dietary Monitoring of Inborn Errors of Metabolism in Patients on a Low-Protein Diet. [PDF]

Healthc Inform Res
Franceschetto BF, Orlandi JM, Rosa WC, Scortegagna ML, Farret L, Schwartz IVD, Poloni S.   +6 more
europepmc   +1 more source

Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism. [PDF]

Int J Mol Sci, 2022
Soriano-Sexto A, Gallego D, Leal F, Castejón-Fernández N, Navarrete R, Alcaide P, Couce ML, Martín-Hernández E, Quijada-Fraile P, Peña-Quintana L, Yahyaoui R, Correcher P, Ugarte M, Rodríguez-Pombo P, Pérez B.   +14 more
europepmc   +1 more source

Novel human recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in a glyco-engineered Escherichia coli strain

Heliyon
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS), resulting in the accumulation of keratan sulfate (KS) and chondroitin-6 ...
Luisa N. Pimentel-Vera, Alexander Rodríguez-López, Angela J. Espejo-Mojica, Aura María Ramírez, Carolina Cardona, Luis H. Reyes, Shunji Tomatsu, Thapakorn Jaroentomeechai, Matthew P. DeLisa, Oscar F. Sánchez, Carlos J. Alméciga-Díaz   +10 more
doaj  

N-Acetylated Metabolites in Urine: Proton Nuclear Magnetic Resonance Spectroscopic Study on Patients with Inborn Errors of Metabolism [PDF]

, 2004
Udo F. H. Engelke, M.L.F. Liebrand-van Sambeek, J.G.N. de Jong, Jules G. Leroy, Éva Morava, Jan A. M. Smeitink, Ron A. Wevers   +6 more
openalex   +1 more source

Epidemiology of SARS-CoV-2 Infection in Patients with Neuromuscular Disease and Inborn Errors of Metabolism: A Cross-sectional Study for a Pediatric Outpatient Referral in Japan. [PDF]

Kobe J Med Sci
Hong S, Iketani K, Sonehara S, Hanafusa H, Nambu Y, Nozu K, Awano H, Bo R.   +7 more
europepmc   +1 more source

Optogenetically‐induced sustained hypothalamic hyperexcitability impairs memory via thalamic spread

Epilepsia, EarlyView.
Abstract Objective Clinical investigators have hypothesized that interictal epileptiform discharges (IEDs) generated by hypothalamic hamartoma (HH) lead to cognitive dysfunction in patients with drug‐resistant gelastic seizures. Herein we provide causal evidence supporting this hypothesis by demonstrating that excitatory neural bursts, when propagating
Masaki Sonoda, Hisao Aimi, Keisuke Kawasaki, Haruo Toda, Shinobu Hirai, Masao Horie, Reiko Meguro, Eishi Asano, Haruo Okado, Shigeki Kameyama, Tetsuya Yamamoto, Isao Hasegawa   +11 more
wiley   +1 more source