Results 111 to 120 of about 6,948 (153)

Liver transplantation [PDF]

, 1991
Gordon, RD, Starzl, TE, Todo, S, Tzakis, AG   +3 more
core  

Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders [PDF]

core   +1 more source

Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases. [PDF]

J Community Genet
Trapp FB, Riegel M, Michelin-Tirelli K, da Silva LAL, Iop GD, Bender-Pasetto F, Sebastião FM, da Silva Moraes I, Lopes FF, Dos Santos ORT, da Rosa Pereira F, Silva LP, Luiz AA, da Silva CA, Lucas KDP, Netto ABO, Brasil CS, Leistner S, Brusius-Facchin AC, Deon M, Civallero GES, Giugliani R.   +21 more
europepmc   +1 more source

Children's health: insights from space medicine on metabolic health. [PDF]

NPJ Microgravity
Ferraro S, Ghani F, Tosi M, Dave A, Verduci E, Mauri A, Zuccotti G, Mason CE, Marcovina S.   +8 more
europepmc   +1 more source

Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach. [PDF]

Front Immunol
Rozevska M, Daila Neiburga-Vigante K, Nartisa I, Lucane Z, Ozola L, Bardina L, Jaunalksne I, Gerula N, Krike P, Taurina G, Nokalna-Spale I, Micule I, Vilne B, Kisand K, Pajusalu S, Gailite L, Rots D, Kurjane N.   +17 more
europepmc   +1 more source

Food for Special Medical Purposes: A Global Review of Usage Trends, Regulatory Frameworks, and Key Growth Drivers. [PDF]

Clin Nutr Res
Kang HJ, Park YK.
europepmc   +1 more source

Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): A Case Report With a Complex Biochemical Profile. [PDF]

JIMD Rep
Penicaud R, Ferron JB, Valette X, Bauduin P, Faisant M, Schiff M, Nguyen A, Fontaine F, Allouche S.   +8 more
europepmc   +1 more source

A rare case of fructose-1, 6-bisphosphatase deficiency: Clinical features in a pediatric patient. [PDF]

Mol Genet Metab Rep
Pokhrel S, Sainju S, Lamsal P, Chhetri UD.   +3 more
europepmc   +1 more source

Portasystemic shunting for metabolic disease [PDF]

, 1979
Benichou, J, Starzl, TE
core  

Recurrent Myalgia, Dark Urine, and Exercise Intolerance: Glycogen Storage Disease Type X Diagnosed Through Gene Sequencing Panel. [PDF]

Cureus
Furuta Y, Phillips JA.
europepmc   +1 more source