Keyword Connections

pompe

Journals

1

1 Revista portuguesa de pneumologia

Research Groups

0

No Research Group Connected

Bibliographies

31

1 Prevalence of late-onset pompe disease in Portuguese patients with diaphragmatic paralysis - DIPPER study.

2 Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.

3 [Juvenile Pompe disease: retrospective clinical study].

4 A Systematic Review of the Health Economics of Pompe Disease.

5 Airway abnormalities in very early treated infantile-onset Pompe disease: A large-scale survey by flexible bronchoscopy.

6 The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.

7 Glycogen storage in a zebrafish Pompe disease model is reduced by 3-BrPA treatment.

8 Comparisons of Infant and Adult Mice Reveal Age Effects for Liver Depot Gene Therapy in Pompe Disease.

9 Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.

10 Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families.

11 Novel Mutations Found in Individuals with Adult-Onset Pompe Disease.

12 The decision-making levels of urine tetrasaccharide for the diagnosis of Pompe disease in the Turkish population.

13 compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease.

14 Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations.

15 Novel Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis.

16 The Respiratory Phenotype of Pompe Disease Mouse Models.

17 emisiones militares pompeyanas del año 49 a.c. en hispania

18 raman study on pompeii potteries: the role of calcium hydroxide on the surface treatment

19 a pilot study on using rapamycin-carrying synthetic vaccine particles (svp) in conjunction with enzyme replacement therapy to induce immune tolerance in pompe disease

20 negative comparison in plutarch's <i>agesilaus-pompey</i>

21 pompe disease clinical and laboratory diagnostic features

22 el rol del fisioterapeuta en el manejo de la enfermedad de pompe

23 antisense oligonucleotide-mediated suppression of muscle glycogen synthase 1 synthesis as an approach for substrate reduction therapy of pompe disease

24 from cryptic toward canonical pre-mrna splicing in pompe disease: a pipeline for the development of antisense oligonucleotides

25 targeted approaches to induce immune tolerance for pompe disease therapy

26 pain in adult patients with pompe disease

27 el áureo de cn. pompeyo magno (rrc 402/1)

28 pompe disease: from pathophysiology to therapy and back again

29 some observations about the exibition “pompe dei medici” (florence, palazzo panciatichi, consiglio regionale of tuscany, may 5-7 2017)

30 prevalence of late-onset pompe disease in portuguese patients with diaphragmatic paralysis â dipper study

31 teaching and learning english through the project work. innovative pilot teaching project in the pre-school and primary school pompeu fabra, vallirana, barcelona. investigation in action comprehension in primary education