Results 71 to 80 of about 1,659 (139)

Descriptive Analysis of Carrier and Affected Hereditary Fructose Intolerance in Women during Pregnancy. [PDF]

Healthcare (Basel)
Zuriaga E, Santander S, Lomba L, Izquierdo-García E, Luesma MJ.   +4 more
europepmc   +1 more source

Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance. [PDF]

Nutrients, 2019
Di Dato F, Spadarella S, Puoti MG, Caprio MG, Pagliardini S, Zuppaldi C, Vallone G, Fecarotta S, Esposito G, Iorio R, Parenti G, Spagnuolo MI.   +11 more
europepmc   +1 more source

Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum. [PDF]

Am J Med Genet A, 2017
Ferreira CR, Devaney JM, Hofherr SE, Pollard LM, Cusmano-Ozog K.   +4 more
europepmc   +1 more source

Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India. [PDF]

JIMD Rep, 2015
Bijarnia-Mahay S, Movva S, Gupta N, Sharma D, Puri RD, Kotecha U, Saxena R, Kabra M, Mohan N, Verma IC.   +9 more
europepmc   +1 more source

Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. [PDF]

J Inherit Metab Dis, 2010
Coffee EM, Tolan DR.
europepmc   +1 more source

Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. [PDF]

JIMD Rep, 2012
Ferri L, Caciotti A, Cavicchi C, Rigoldi M, Parini R, Caserta M, Chibbaro G, Gasperini S, Procopio E, Donati MA, Guerrini R, Morrone A.   +11 more
europepmc   +1 more source

[Hereditary fructose intolerance].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 1970
G, Fluge, V, Lehmann, P J, Moe
openaire   +1 more source

The Impact of Muscle Fatigue on McArdle Disease: A Case Report. [PDF]

Cureus
Valente L, Santos G, Velho R, Santos JF, Duarte O, Correia L.   +5 more
europepmc   +1 more source

The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children. [PDF]

Diagnostics (Basel)
Lipiński P, Doroba A.
europepmc   +1 more source