Results 91 to 100 of about 10,064 (198)

Modeling Inherited Methylmalonic Acidemia Using Isogenic Human Induced Pluripotent Stem Cell-Derived Hepatocytes with Mutations in <i>Methylmalonyl-CoA Mutase</i>. [PDF]

MicroPubl Biol
Pournasr B, Duncan S.
europepmc   +1 more source

Prevalence and patterns of abnormal metabolic screening in pediatric acute encephalopathy: a PICU study from Egypt. [PDF]

Eur J Pediatr
Abdelrazic MI, Hemeda MS, Abd-Elaziz MA, Mahmoud AR, Abuelela IS.   +4 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

Beyond hypoxic-ischemic encephalopathy: genetic insights and precision diagnosis in neonatal encephalopathies. [PDF]

Front Med (Lausanne)
Cimino C, Sortino V, Sapuppo A, Saporito MAN, Scarlata F, Falsaperla R.   +5 more
europepmc   +1 more source

Health-Related Coping Behaviors Among Parents of Children with Inborn Errors of Metabolism: A Survey by Dietary Therapy, Child Age, and Diagnostic Category. [PDF]

Int J Neonatal Screen
Matsumoto Y, Kushihashi Y, Suwa A, Tajima G.   +3 more
europepmc   +1 more source

Advancements and insights into newborn screening with tandem mass spectrometry in China: a comprehensive descriptive analysis (2017-2021). [PDF]

BMJ Paediatr Open
Yang X, Zhao Q, Pan R, Wu X, Xu Y, Lin Z, Huang X, Huang X, Yang R, Ma D, Zhao Z.   +10 more
europepmc   +1 more source

Screening and Stratification Utility of GDF-15 and FGF-21 in Individuals Evaluated for Suspected Mitochondrial Disease: A Malaysian Cohort Study. [PDF]

Metabolites
Omar A, Abg Kamaludin DP, Mohamed WAS, Nordin FDA, Mohamed R, Razali BH, Ismail I, Hock NL, Jalil JA.   +8 more
europepmc   +1 more source

Association of maternal biliary disease with hepatopancreatobiliary morbidity in offspring. [PDF]

J Pediatr Gastroenterol Nutr
Auger N, Magri A, Kang-Auger S, Jutras G, Healy-Profitós J, Bilodeau-Bertrand M, Côté-Corriveau G.   +6 more
europepmc   +1 more source

Diagnostic and management challenges of a case of N-acetylglutamate synthase deficiency in a resource-limited healthcare setting in Tanzania: a case report. [PDF]

BMC Pediatr
Thaver S, Ebrahim M, Noorani M, Alimohamed ZM, Edward K, Furia F, Kwayu J, Fidaali Z, Abdallah Y.   +8 more
europepmc   +1 more source

Mental Reterdation in Inborn Errors of Amino Acid Metabolism

Eiyo To Shokuryo, 1976
Keiya TADA, Hisao AOKI, Goro TAKADA, Kiyoshi OMURA   +3 more
openaire   +3 more sources