Results 101 to 110 of about 2,907,636 (184)

Cardiac magnetic resonance in Pompe disease: a systematic literature review. [PDF]

Radiol Med
Lupi A, Schiavone E, Gragnaniello V, Cervaro S, Crimì F, Quaia E, Burlina A, Pepe A.   +7 more
europepmc   +1 more source

Case Report: Homozygous mutation in the <i>ACAD9</i> gene revealed in a pediatric patient initially diagnosed with familial cardiac hypertrophy. [PDF]

Front Med (Lausanne)
Kotlukova N, Kadykova A, Gorelova T, Dzik L, Islanov I, Zaklyazminskaya E.   +5 more
europepmc   +1 more source

A Tarui Disease Phenotype with Compensated Hemolysis and a Homozygous <i>PFKM</i> Variant of Uncertain Significance Mimicking Chronic Myelomonocytic Leukemia. [PDF]

J Clin Med
Neculcea AC, Aanicai R, Massoto B, Nistor RI, Fierbințeanu-Braticevici C, Mambet C, Mititelu A, Neagu AM, Paraschiv C, Popescu M, Severin E, Vlădăreanu AM.   +11 more
europepmc   +1 more source

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders. [PDF]

J Inherit Metab Dis
McCarron EP, Blau N, Eden ER, Platt FM, Aerts JM, Jones SA, Ferreira CR, Stepien KM.   +7 more
europepmc   +1 more source

Second-Tier Whole Exome Sequencing Following Abnormal Newborn Screening: Diagnostic Yield, Secondary Findings, and Carrier Burden in a Taiwanese Neonatal Cohort. [PDF]

Children (Basel)
Lee CY, Niu DM, Yang CF, Chen YJ.
europepmc   +1 more source

Molecular Assessment of Genes Linked to Honeybee Health Fed with Different Diets in Nuclear Colonies. [PDF]

Insects
Diedrick WA, Kanga LHB, Mallinger R, Pescador M, Elsharkawy I, Zhang Y.   +5 more
europepmc   +1 more source

In Thickness and in Health: Delayed-Onset Pompe Disease Resembling Hypertrophic Cardiomyopathy. [PDF]

Cureus
Lasam G, Lasam MKC.
europepmc   +1 more source

Acid sphingomyelinase deficiency: Phenotypic, biochemical, and molecular heterogeneity in a series of 47 Iraqi patients from a single center. [PDF]

Mol Genet Metab Rep
Farhan R, Al-Tai M, Ahmed IA, Kareem A, Baheer S, Sadik BM, Jafar MM, Alothman MS.   +7 more
europepmc   +1 more source

Stability of alglucosidase alfa in 0.9% sodium chloride for enzyme replacement therapy in patients with Pompe disease: insights from enzyme activity and cellular uptake measurements. [PDF]

Eur J Hosp Pharm
Barzel I, Brugma JC, Jacobs EH, Hoogeveen-Westerveld M, van der Kuy PHM, Preijers T.   +5 more
europepmc   +1 more source