Keyword Connections

pompe disease

Journals

10

1 PloS one

2 International journal of molecular sciences

3 orphanet journal of rare diseases

4 biochimica et biophysica acta molecular basis of disease

5 molecular therapy methods & clinical development

6 bmc medical genetics

7 Aging

8 american journal of medical genetics part a

9 Genetics in medicine : official journal of the American College of Medical Genetics

10 journal of pediatric endocrinology & metabolism : jpem

Research Groups

0

No Research Group Connected

Bibliographies

25

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

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

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

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

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

6 Effects of supplemental creatine and guanidinoacetic acid on spatial memory and the brain of weaned Yucatan miniature pigs.

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

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

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

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

11 The Respiratory Phenotype of Pompe Disease Mouse Models.

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

13 pompe disease clinical and laboratory diagnostic features

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

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

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

17 [Juvenile Pompe disease: retrospective clinical study].

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

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

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

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

22 targeted approaches to induce immune tolerance for pompe disease therapy

23 pain in adult patients with pompe disease

24 pompe disease: from pathophysiology to therapy and back again

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