Results 141 to 150 of about 19,497 (183)

Timing and Indications for Liver Transplantation for Children with Chronic Liver Disease. [PDF]

Children (Basel)
Suthantirakumar RL, Gupte GL.
europepmc   +1 more source

International Survey on Phenylketonuria Newborn Screening. [PDF]

Int J Neonatal Screen
Trampuž D, Schielen PCJI, Zetterström RH, Scarpa M, Feillet F, Kožich V, Tangeraas T, Drole Torkar A, Mlinarič M, Perko D, Remec ŽI, Lampret BR, Battelino T, Isns Study Group On Pku, van Spronsen FJ, Bonham JR, Grošelj U.   +16 more
europepmc   +1 more source

Applications of Metabolomics and Lipidomics in the Neonatal Intensive Care Unit. [PDF]

Neoreviews
Reiss JD, Mataraso SJ, Holzapfel LF, Marić I, Kasowski MM, Martin CR, Long JZ, Stevenson DK, Shaw GM, Stanford Metabolic Health Center.   +9 more
europepmc   +1 more source

Portal diversion for inborn errors of metabolism: With special reference to glycogen storage disease, Type II hyperlipidemia, and juvenile Gaucher's disease [PDF]

, 1978
Putnam, CW, Starzl, TE
core  

Analysis of genomic ancestry and characterization of a new variant in MPS type VII. [PDF]

Orphanet J Rare Dis
da Costa AJM, de Souza ICN, Feio RH, Viana LKL, Cisz M, Rafaelli CL, Trapp FB, Burin MG, Michelin-Tirelli K, Brusius-Facchin AC, Netto ABO, Khayat AS, Dos Santos NPC, Giugliani R, Santana-da-Silva LC.   +14 more
europepmc   +1 more source

A multiomic network approach uncovers disease modifying mechanisms of inborn errors of metabolism

Bender A, Ranea-Robles P, Williams EG, Mirzaian M, Heimel JA, Levelt CN, Wanders RJ, Aerts JM, Zhu J, Auwerx J, Houten SM, Argmann CA.   +11 more
europepmc   +1 more source

Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience. [PDF]

Orphanet J Rare Dis
Al Khudari R, Baqla S, Al Asmar D.
europepmc   +1 more source

Nutrition Support Therapy for Hospitalized Children with Malnutrition: A Narrative Review. [PDF]

Healthcare (Basel)
AlQahtani SN, AlGubaisi S, AlHaffaf FA, Makki RJ, Alohali EA, AlMadani RO, AlSagiheer HM, Al-Otaibi MM, Mohammed HT.   +8 more
europepmc   +1 more source

The Arg108Cys Variant of Methylmalonyl-CoA Mutase: Clinical Implications for the Mexican Population Based on Molecular Dynamics and Docking. [PDF]

Int J Mol Sci
Vela-Amieva M, Delgado-Maldonado T, Ortega-Valdez E, Rivera G, López-Velázquez G, Fernández-Lainez C.   +5 more
europepmc   +1 more source