(Q44593282)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14505049%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

title

The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents (English)

1 reference

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19 December 2019

1 reference

1 reference

1

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19 December 2019

Rossella Parini

3

1 reference

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19 December 2019

author name string

Uma Ramaswami

2

1 reference

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19 December 2019

Bengt Lindblad

4

1 reference

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19 December 2019

Catharina Whybra

5

1 reference

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19 December 2019

Ingrid Willers

6

1 reference

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19 December 2019

Andreas Gal

7

1 reference

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19 December 2019

Michael Beck

8

1 reference

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19 December 2019

publication date

20 September 2003

1 reference

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European Journal of Pediatrics

19 December 2019

published in

1 reference

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19 December 2019

volume

162

1 reference

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19 December 2019

issue

11

1 reference

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19 December 2019

page(s)

767-772

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https://scigraph.springernature.com/pub.10.1007/s00431-003-1299-3

19 December 2019

exact match

0 references

cites work

Adult GM1 gangliosidosis: clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1 gangliosidosis

1 reference

12 December 2020

Angiokeratoma and pain, but not Fabry's disease: considerations for differential diagnosis

1 reference

12 December 2020

Enzymatic Defect in Fabry's Disease

1 reference

12 December 2020

Gastrointestinal symptoms and delayed gastric emptying in Fabry's disease: response to metoclopramide

1 reference

12 December 2020

Adult type neuronal storage disease with neuraminidase deficiency

1 reference

12 December 2020

Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family.

1 reference

12 December 2020

Fabry disease: Significance of ultrastructural localization of lipid inclusions in dermal nerves

1 reference

12 December 2020

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

1 reference

12 December 2020

Use of gabapentin to reduce chronic neuropathic pain in Fabry disease

1 reference

12 December 2020

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females

1 reference

12 December 2020

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

1 reference

12 December 2020

A characteristic dissection microscopy appearance of a renal biopsy of a Fabry heterozygote

1 reference

12 December 2020

Pathophysiologic and ultrastructural basis for intestinal symptoms in Fabry's disease.

1 reference

12 December 2020

The ultrastructural characteristics of eccrine sweat glands in a Fabry disease patient with hypohidrosis

1 reference

12 December 2020

A 19-year-old female with fever, acroparesthesia, and progressive deterioration of renal function

1 reference

12 December 2020

[Mechanism-based treatment principles of neuropathic pain]

1 reference

12 December 2020

Fabry's disease. Carbamazepine therapy in acrodyniform syndrome

1 reference

12 December 2020

Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes

1 reference

12 December 2020

Angiokeratoma corporis diffusum with alpha-L-fucosidase deficiency

1 reference

12 December 2020

Physiological characterization of neuropathy in Fabry's disease

1 reference

12 December 2020

Cardiac manifestations of Anderson-Fabry disease in heterozygous females

1 reference

12 December 2020

Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum

1 reference

12 December 2020

Relief of chronic burning pain in Fabry disease with neurotropin

1 reference

12 December 2020

Relief of pain of Fabry's disease by diphenylhydantoin

1 reference

12 December 2020

Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients

1 reference

12 December 2020

Preselective gene therapy for Fabry disease

1 reference

12 December 2020

Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease

1 reference

12 December 2020

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males

1 reference

12 December 2020