Results 151 to 160 of about 6,468 (222)

Surgery for metabolic liver disease [PDF]

, 1986
Starzl, TE
core  

Decoding rare inherited metabolic disorders: advancing precision in screening and diagnosis. [PDF]

Orphanet J Rare Dis
Wasim M, Khan HN, Wang Y, Ma G.
europepmc   +1 more source

Liver transplantation for inborn errors of metabolism [PDF]

, 1977
Koep, L, Putnam, CW, Starzl, TE
core  

Comment on Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66. [PDF]

Int J Neonatal Screen
Bouva MJ, Maase RE, van Elburg RM.
europepmc   +1 more source

Incidental maternal glutaric aciduria type I detection through newborn screening: A case report. [PDF]

Mol Genet Metab Rep
Grillet PE, Marelli C, Mondésert E, Francois-Heude MC, Roubertie A, Sabourdy F, Cristol JP, Acquaviva C, Badiou S.   +8 more
europepmc   +1 more source

Hereditary Tyrosinemia Type-1 With Late Presentation: A Case Report. [PDF]

Cureus
Ilyaz M, Jadhav RS, Pande V, Mane S, Mokkarala P.   +4 more
europepmc   +1 more source

A case and review of fibroblast growth factor-23-mediated hypophosphatemic osteomalacia in the absence of pathogenic <i>PHEX</i> variants. [PDF]

JBMR Plus
Park YA, Gong JY, Chiang C, Trainer AH, Yates CJ.   +4 more
europepmc   +1 more source

Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in The Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone. [PDF]

Int J Neonatal Screen
Bouva MJ, Kuypers AM, Kemper EA, Maase RE, Bosch AM, van Spronsen FJ, Heijboer AC, Heiner-Fokkema MR, Heil SG, Boelen A.   +9 more
europepmc   +1 more source

Integrating Machine Learning and Follow-Up Variables to Improve Early Detection of Hepatocellular Carcinoma in Tyrosinemia Type 1: A Multicenter Study. [PDF]

Int J Mol Sci
Fuenzalida K, Leal-Witt MJ, Acevedo A, Muñoz M, Gudenschwager C, Arias C, Cabello JF, La Marca G, Rizzo C, Pietrobattista A, Spada M, Dionisi-Vici C, Cornejo V.   +12 more
europepmc   +1 more source