[HTML][HTML] In utero enzyme-replacement therapy for infantile-onset Pompe's disease
JL Cohen, P Chakraborty… - … England Journal of …, 2022 - Mass Medical Soc
Patients with early-onset lysosomal storage diseases are ideal candidates for prenatal
therapy because organ damage starts in utero. We report the safety and efficacy results of in …
therapy because organ damage starts in utero. We report the safety and efficacy results of in …
[HTML][HTML] A roadmap for potential improvement of newborn screening for inherited metabolic diseases following recent developments and successful applications of …
The mucopolysaccharidoses (MPS), Pompe Disease (PD), and Krabbe disease (KD) are
inherited conditions known as lysosomal storage disorders (LSDs) The resulting enzyme …
inherited conditions known as lysosomal storage disorders (LSDs) The resulting enzyme …
[HTML][HTML] Newborn screening for Pompe disease in Italy: Long-term results and future challenges
V Gragnaniello, PWWM Pijnappel, AP Burlina… - Molecular Genetics and …, 2022 - Elsevier
Pompe disease (PD) is a progressive neuromuscular disorder caused by a lysosomal acid α-
glucosidase (GAA) deficiency. Enzymatic replacement therapy is available, but early …
glucosidase (GAA) deficiency. Enzymatic replacement therapy is available, but early …
[HTML][HTML] Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via …
Purpose: The addition of Pompe disease (Glycogen Storage Disease Type II) to the
Recommended Uniform Screening Panel in the United States has led to an increase in the …
Recommended Uniform Screening Panel in the United States has led to an increase in the …
[HTML][HTML] To detect potential pathways and target genes in infantile Pompe patients using computational analysis
Results: A total of 1727 genes in the biceps group and 1198 genes in the quadriceps group
are expressed differently. It was observed that DEGs were enriched in the group that …
are expressed differently. It was observed that DEGs were enriched in the group that …
The earliest enzyme replacement for infantile‐onset Pompe disease in Japan
V Tocan, Y Mushimoto, K Kojima‐Ishii… - Pediatrics …, 2022 - Wiley Online Library
Abstract Background Infantile‐onset Pompe disease (IOPD) is the most severe phenotype of
a lysosomal storage disorder caused by acid alpha‐glucosidase (GAA) deficiency. An …
a lysosomal storage disorder caused by acid alpha‐glucosidase (GAA) deficiency. An …
Analyse médico-économique du dépistage néonatal de l'amyotrophie spinale en Fédération Wallonie-Bruxelles
T Dangouloff - 2022 - orbi.uliege.be
L'objet de cette thèse doctorale en sciences de la santé publique est d'étudier la mise en
place du dépistage néonatal de l'amyotrophie spinale (SMA), d'évaluer les implications …
place du dépistage néonatal de l'amyotrophie spinale (SMA), d'évaluer les implications …
[HTML][HTML] Búsqueda de biomarcadores y estudio de mecanismos fisiopatológicos en la enfermedad de Pompe
A Carrasco-Rozas - 2022 - ddd.uab.cat
La malaltia de Pompe d'inici tardà (EPIT) és un trastorn genètic rar produït per mutacions al
gen GAA i es caracteritza per una debilitat muscular progressiva. Les biòpsies musculars de …
gen GAA i es caracteritza per una debilitat muscular progressiva. Les biòpsies musculars de …