Results 121 to 130 of about 10,064 (198)

Inherited disorders of cobalamin metabolism in childhood: biochemical and clinical perspectives. [PDF]

Front Nutr
Saini AG, Gunasekaran PK, Prasad AN.
europepmc   +1 more source

Comparative Small RNA Sequencing Reveals Candidate Functional miRNAs in Nonketotic Hyperglycinemia. [PDF]

Mol Syndromol
Bayrak H, Sharafi P, Özketen AÇ, Kılıç M.   +3 more
europepmc   +1 more source

Metabolic advances in 2025: from clinical breakthroughs to molecular reprogramming. [PDF]

Metabol Open
Dalamaga M, Liu J.
europepmc   +1 more source

Transient abnormal acylcarnitine profile in newborn screening mimicking multiple acyl-Coenzyme A dehydrogenase deficiency associated with maternal sertraline use. [PDF]

Mol Genet Metab Rep
Barbetti R, Coleman K, Fraser L, Demetriou K, Jayadiwangsa E, Bratkovic D, Siu CW.   +6 more
europepmc   +1 more source

Dietary Inflammatory Index and Nutritional Status in Children with Inborn Errors of Metabolism on Protein-Restricted Diets. [PDF]

Nutrients
Aktaş E, Çiçek B, Okur I, İnci A, Tümer L.   +4 more
europepmc   +1 more source

Whole exome sequencing in pediatric hyperammonemia: significant diagnostic yield and identification of three novel variants. [PDF]

BMC Med Genomics
Hajati R, Hashemian F, Salehpour S, Sayad A.   +3 more
europepmc   +1 more source

RPLC- and HILIC-based non-targeted metabolomics workflow for blood microsamples. [PDF]

Metabolomics
Couacault P, Witting M.
europepmc   +1 more source

Isobutyryl-coenzyme a dehydrogenase deficiency: disease, or non-disease? [PDF]

Orphanet J Rare Dis
Santacruz Reyes MD, Sass JO.
europepmc   +1 more source

Fatal Late-Onset Ornithine Transcarbamylase Deficiency in an Adolescent: A Case Report. [PDF]

Cureus
Christou E, Ntouzepi K, Machaira M, Tziouvas K, Patsoura A.   +4 more
europepmc   +1 more source

Perioperative management of pediatric patients with inborn errors of metabolism during liver transplantation. [PDF]

World J Transplant
Paulin S, Rajakumar A, Menon J, Shanmugam N, Rela M.   +4 more
europepmc   +1 more source