(Q62554858)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19588081%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations (English)

1 reference

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2 February 2020

8

1 reference

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2 February 2020

Juan Llerena Jr.

13

1 reference

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2 February 2020

Suely K Marie

25

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2 February 2020

21

Lineu Werneck

1 reference

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2 February 2020

1

Sueli M Oba-Shinjo

1 reference

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2 February 2020

24

Robert J Mattaliano

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2 February 2020

author name string

Gilda Porta

9

1 reference

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2 February 2020

Verônica Munoz

11

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2 February 2020

Claudia Sobreira

15

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2 February 2020

Dafne Horovitz

16

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2 February 2020

Rogerio Pecchini

19

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2 February 2020

João Aris Kouyoumdjian

20

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2 February 2020

Roseli da Silva

2

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2 February 2020

Fernanda G Andrade

3

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2 February 2020

Rachel E Palmer

4

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2 February 2020

Robert J Pomponio

5

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2 February 2020

Kristina M Ciociola

6

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2 February 2020

Mary S Carvalho

7

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2 February 2020

Carlo D Marrone

10

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2 February 2020

Anderson K Grzesiuk

12

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2 February 2020

Célia R Berditchevsky

14

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2 February 2020

Thamine P Hatem

17

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2 February 2020

Elizabeth R C Frota

18

1 reference

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2 February 2020

Veronica M Amado

22

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2 February 2020

José S Camelo

23

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2 February 2020

publication date

9 July 2009

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2 February 2020

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2 February 2020

volume

256

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2 February 2020

issue

11

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2 February 2020

page(s)

1881-1890

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https://scigraph.springernature.com/pub.10.1007/s00415-009-5219-y

2 February 2020

exact match

0 references

cites work

Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites

1 reference

12 December 2020

The African origin of the common mutation in African American patients with glycogen-storage disease type II.

1 reference

12 December 2020

Genetic defects in patients with glycogenosis type II (acid maltase deficiency)

1 reference

12 December 2020

A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II).

1 reference

12 December 2020

Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization

1 reference

12 December 2020

Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations

1 reference

12 December 2020

Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype

1 reference

12 December 2020

L-alanine supplementation in late infantile glycogen storage disease type II.

1 reference

12 December 2020

Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation

1 reference

12 December 2020

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).

1 reference

12 December 2020

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

1 reference

12 December 2020

Physical therapy management of Pompe disease

1 reference

12 December 2020

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

1 reference

12 December 2020

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk

1 reference

12 December 2020

[Severe form of juvenile type II glycogenosis in a compound-heterozygous boy (Tyr-292--> Cys/Arg-854-->Stop)]

1 reference

12 December 2020

Isolation and Partial Characterization of the Structural Gene for Human Acid Alpha Glucosidase

1 reference

12 December 2020

Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease

1 reference

12 December 2020

Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation

1 reference

12 December 2020

Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation

1 reference

12 December 2020

Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences

1 reference

12 December 2020

Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans

1 reference

12 December 2020

Characterization of the human lysosomal alpha-glucosidase gene

1 reference

12 December 2020

Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients

1 reference

12 December 2020

Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients

1 reference

12 December 2020

Glycogen Storage Disease Type II: Identification of Four Novel Missense Mutations (D645N, G648S, R672W, R672Q) and Two Insertions/Deletions in the Acid α-Glucosidase Locus of Patients of Differing Phenotype

1 reference

12 December 2020

Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells

1 reference

12 December 2020

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.

1 reference

12 December 2020

A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).

1 reference

12 December 2020

Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor

1 reference

12 December 2020