(Q1399155)

English

Fazio-Londe disease

a very rare inherited motor neuron disease of children and young adults

Progressive bulbar palsy of childhood
Riboflavin transporter deficiency
FALOND

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infantile progressive bulbar palsy

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progressive bulbar palsy

1 reference

23 November 2020

autosomal recessive disease

1 reference

23 November 2020

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drug or therapy used for treatment

riboflavin 5'-phosphate sodium dihydrate

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genetic association

SLC52A3

1 reference

stated in

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

exact match

http://purl.obolibrary.org/obo/DOID_0080632

1 reference

23 November 2020

http://identifiers.org/doid/DOID:0080632

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

Identifiers

1 reference

23 November 2020

1 reference

imported from Wikimedia project

English Wikipedia

GPnotebook ID

470155312

1 reference

imported from Wikimedia project

English Wikipedia

ICD-10 ID

G12.1

1 reference

imported from Wikimedia project

English Wikipedia

ICD-9 ID

335.2

1 reference

imported from Wikimedia project

English Wikipedia

Microsoft Academic ID

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1 reference

imported from Wikimedia project

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(Q1399155)

Fazio-Londe disease

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