(Q45237555)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15669676%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

title

Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings (English)

1 reference

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7 January 2020

1 reference

9

1 reference

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7 January 2020

Rossella Parini

2

1 reference

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7 January 2020

author name string

B Giuffrè

1

1 reference

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7 January 2020

T Rizzuti

3

1 reference

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7 January 2020

L Morandi

4

1 reference

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7 January 2020

O P van Diggelen

5

1 reference

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7 January 2020

C Bruno

6

1 reference

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7 January 2020

M Giuffrè

7

1 reference

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7 January 2020

G Corsello

8

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7 January 2020

publication date

1 January 2004

1 reference

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Journal of Inherited Metabolic Disease

7 January 2020

published in

1 reference

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7 January 2020

volume

27

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7 January 2020

issue

5

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7 January 2020

page(s)

609-619

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Lysosomal glycogen storage disease with normal acid maltase

7 January 2020

cites work

1 reference

12 December 2020

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

1 reference

12 December 2020

An improved procedure for diagnosis of Gaucher disease using cultured skin fibroblasts and the chromogenic substrate, 2-hexadecanoylamino-4-nitrophenyl-beta-D-glucopyranoside

1 reference

12 December 2020

Glycogenosis IV: A new cause of infantile hypotonia

1 reference

12 December 2020

Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis.

1 reference

12 December 2020

Glycogen branching enzyme deficiency in adult polyglucosan body disease

1 reference

12 December 2020

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

1 reference

12 December 2020

Concomitant branching enzyme and phosphorylase deficiencies. An unusual glycogenosis with extensive neuronal polyglucosan storage

1 reference

12 December 2020

Structure of glycogens and amylopectins. III. Normal and abnormal human glycogen

1 reference

12 December 2020

Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis

1 reference

12 December 2020

A new variant of type IV glycogenosis: deficiency of branching enzyme activity without apparent progressive liver disease

1 reference

12 December 2020

A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy

1 reference

12 December 2020

Demonstration of acid alpha-glucosidase in different types of Pompe disease by use of an immunochemical method

1 reference

12 December 2020

Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis)

1 reference

12 December 2020

A juvenile variant of glycogenosis IV (Andersen disease)

1 reference

12 December 2020

Hydrops fetalis: lysosomal storage disorders in extremis

1 reference

12 December 2020

Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease

1 reference

12 December 2020

A congenital variant of glycogenosis type IV

1 reference

12 December 2020

A neonatal form of glycogen storage disease type IV.

1 reference

12 December 2020

The diagnosis of type A and type B Niemann Pick disease and detection of carriers using leukocytes and a chromogenic analogue of sphingomyelin

1 reference

12 December 2020

The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies

1 reference

12 December 2020

Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast

1 reference

12 December 2020

[Congenital variant of type IV glycogenosis. Anatomoclinical report of a case]

1 reference

12 December 2020

Gaucher's disease II. Studies on the kinetics of beta-glucosidase and the effects of sodium taurocholate in normal and Gaucher tissues

1 reference

12 December 2020

Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease

1 reference

12 December 2020

Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis

1 reference

12 December 2020

Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease

1 reference

12 December 2020

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene

1 reference

12 December 2020

Glycogen storage disease type IV presenting as hydrops fetalis

1 reference

12 December 2020