Results 141 to 150 of about 2,017,541 (209)

A Machine Learning Approach to Differentiate Congenital and Transient Neonatal Hyperammonemia: A 10-Year Case Series. [PDF]

Cureus
Frankevich N, Tokareva A, Makieva M, Mikhailova O, Akhapkina E, Frankevich V.   +5 more
europepmc   +1 more source

Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions. [PDF]

Int J Neonatal Screen
Thimm E, Riederer A, Vockley J, Dobbelaere D, Williams M, MacDonald A, Dokoupil K, Schatz UA, Ensenauer R.   +8 more
europepmc   +1 more source

Diagnosis of organic acidemia in developing countries

Clinica Chimica Acta, 1991
Lin, Yong Y., Wisniewski, Kristina E., Inoue, Yoshito, Matsumoto, Isamu, Schmidt, Benjamin J., Raiman, Erna, Cornejo, Veronica   +6 more
openaire   +2 more sources

Incidence of Organic Acid Disorders in 13 Million Chinese Newborns: A Systematic Review and Meta-Analysis. [PDF]

Int J Neonatal Screen
Huang S, Yao Q, Kong F, Wu M, Qiu X, Zhao P, Zeng Y, Luo J, Xu L, Zhou J.   +9 more
europepmc   +1 more source

Timely intervention in HMG-CoA Lyase deficiency: The role of newborn screening, metabolic management, and genomic sequencing. [PDF]

Mol Genet Metab Rep
Menkovic I, Makhijani N, Francescatto L, Pendyal S, Stanley C, Young SP, Koeberl DD, Niyazov D, Stiles AR.   +8 more
europepmc   +1 more source

Hyperammonemia in Inherited Metabolic Diseases: A Case Report. [PDF]

Cureus
Frankevich N, Makieva M, Mikhailova O, Frankevich V.   +3 more
europepmc   +1 more source

Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase 2 deficiency with severe hyperglycemia in a child: A rare case report. [PDF]

J Int Med Res
Dong C, Lu T, Jiang Y, Yan Z, Zhu S.
europepmc   +1 more source

Metabolic rerouting of valine and isoleucine oxidation increases survival in zebrafish models of disorders of propionyl-CoA metabolism. [PDF]

Hum Mol Genet
Hong S, Pardo J, Head PE, Ellis KT, Arnold ML, Achilly NP, Carrington B, Bishop K, Sood R, Kratz L, Sloan JL, Shchelochkov OA, Venditti CP.   +12 more
europepmc   +1 more source

Clinical Characteristics and Risk factors of Acute Pancreatitis in Paediatric Patients in Oman: <i>An 11-year experience from a tertiary centre</i>. [PDF]

Sultan Qaboos Univ Med J
Shereiqi SSA, Al Fudhaili A, Rahmatalla D, Chandra R, Jaju S, Adawi AA, Al Jamei A, Al Rawahi Y.   +7 more
europepmc   +1 more source

Hyperammonemic encephalopathy after 5-fluorouracil chemotherapy. [PDF]

CMAJ
Salimi P, Soriano A, Crocker E, Goldenberg B.   +3 more
europepmc   +1 more source