[Advances in the diagnosis and treatment of maple syrup urine disease: experience in Galicia (Spain)] (Q81468899)

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9 January 2020

title

[Advances in the diagnosis and treatment of maple syrup urine disease: experience in Galicia (Spain)] (English)

1 reference

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maple syrup urine disease

9 January 2020

main subject

1 reference

M L Couce Pico

1

1 reference

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9 January 2020

D E Castiñeiras Ramos

2

1 reference

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9 January 2020

M D Bóveda Fontán

3

1 reference

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9 January 2020

A J Iglesias Rodríguez

4

1 reference

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9 January 2020

J A Cocho de Juan

5

1 reference

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9 January 2020

J M Fraga Bermúdez

6

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9 January 2020

publication date

1 October 2007

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Anales de Pediatria Continuada

9 January 2020

published in

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9 January 2020

volume

67

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9 January 2020

issue

4

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9 January 2020

page(s)

337-343

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Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns

9 January 2020

cites work

1 reference

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7 January 2021

The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism

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7 January 2021

Tandem Mass Neonatal Screening in Taiwan—Report from One Center

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7 January 2021

Leucine is a direct-acting nutrient signal that regulates protein synthesis in adipose tissue

1 reference

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7 January 2021

Diagnosis and treatment of maple syrup disease: a study of 36 patients

1 reference

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7 January 2021

Maple syrup urine disease: favourable effect of early diagnosis by newborn screening on the neonatal course of the disease.

1 reference

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7 January 2021

Diagnosis of MSUD by newborn screening allows early intervention without extraneous detoxification

1 reference

https://api.crossref.org/works/10.1016%2FS1695-4033%2807%2970651-3

7 January 2021

Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD.

1 reference

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7 January 2021

Maple syrup urine disease: nutritional management by intravenous hyperalimentation and uneventful course after surgical repair of dislocation of the hip

1 reference

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7 January 2021

Variant maple syrup urine disease (MSUD)--the entire spectrum.

1 reference

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7 January 2021

Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression.

1 reference

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7 January 2021

Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype.

1 reference

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7 January 2021

Mutational spectrum of maple syrup urine disease in Spain

1 reference

https://api.crossref.org/works/10.1016%2FS1695-4033%2807%2970651-3

7 January 2021

Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease

1 reference

https://api.crossref.org/works/10.1016%2FS1695-4033%2807%2970651-3

7 January 2021

10.1016/S1695-4033(07)70651-3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17949643%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

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