(Q28138438)

2

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O Hurko

3

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A Besner-Johnston

4

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R I Kelley

Population frequencies of inherited neuromuscular diseases—A world survey

5

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language of work or name

English

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publication date

March 1999

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published in

Annals of Neurology

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volume

45

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issue

3

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page(s)

337-43

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cites work

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C337%3A%3AAID-ANA9%3E3.0.CO%3B2-U

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C337%3A%3AAID-ANA9%3E3.0.CO%3B2-U

Gene deletions in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C337%3A%3AAID-ANA9%3E3.0.CO%3B2-U

Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C337%3A%3AAID-ANA9%3E3.0.CO%3B2-U

The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C337%3A%3AAID-ANA9%3E3.0.CO%3B2-U

When is a deletion not a deletion? When it is converted

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C337%3A%3AAID-ANA9%3E3.0.CO%3B2-U

The survival motor neuron protein in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C337%3A%3AAID-ANA9%3E3.0.CO%3B2-U

Correlation between severity and SMN protein level in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C337%3A%3AAID-ANA9%3E3.0.CO%3B2-U

Lipid disturbances associated with spiral muscular atrophy. Clinical, electromyographic, histochemical, and lipid studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C337%3A%3AAID-ANA9%3E3.0.CO%3B2-U

Dicarboxylic aciduria in an infant with spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C337%3A%3AAID-ANA9%3E3.0.CO%3B2-U

Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: primary or secondary defect(s)?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C337%3A%3AAID-ANA9%3E3.0.CO%3B2-U

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C337%3A%3AAID-ANA9%3E3.0.CO%3B2-U

Beta-oxidation of long-chain fatty acids by human fibroblasts: evidence for a novel long-chain acyl-coenzyme A dehydrogenase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C337%3A%3AAID-ANA9%3E3.0.CO%3B2-U

3-Hydroxyoctanoic aciduria: identification of a new organic acid in the urine of a patient with non-ketotic hypoglycemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C337%3A%3AAID-ANA9%3E3.0.CO%3B2-U

In vitro enzymic omega oxidation of medium-chain fatty acids in mammalian tissue.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C337%3A%3AAID-ANA9%3E3.0.CO%3B2-U

Inhibition of mitochondrial beta-oxidation as a mechanism of hepatotoxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C337%3A%3AAID-ANA9%3E3.0.CO%3B2-U

The changing face of disorders of fatty acid oxidation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C337%3A%3AAID-ANA9%3E3.0.CO%3B2-U

A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C337%3A%3AAID-ANA9%3E3.0.CO%3B2-U

Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C337%3A%3AAID-ANA9%3E3.0.CO%3B2-U

Regulation of hepatic fatty acid oxidation and ketone body production

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C337%3A%3AAID-ANA9%3E3.0.CO%3B2-U

Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C337%3A%3AAID-ANA9%3E3.0.CO%3B2-U

Identification and characterization of a spinal muscular atrophy-determining gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C337%3A%3AAID-ANA9%3E3.0.CO%3B2-U

Diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency in the neonatal period by measurement of medium-chain fatty acids in plasma and filter paper blood samples

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C337%3A%3AAID-ANA9%3E3.0.CO%3B2-U

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C337%3A%3AAID-ANA9%3E3.0.CO%3B2-U