Galactose Epimerase Deficiency: Expanding the Phenotype.

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Galactose Epimerase Deficiency: Expanding the Phenotype.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

@wuu

2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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Galactose Epimerase Deficiency: Expanding the Phenotype.

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Galactose Epimerase Deficiency: Expanding the Phenotype.

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Item

label

Galactose Epimerase Deficiency: Expanding the Phenotype.

@en

Galactose Epimerase Deficiency: Expanding the Phenotype.

@nl

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Galactose Epimerase Deficiency: Expanding the Phenotype.

@en

Galactose Epimerase Deficiency: Expanding the Phenotype.

@nl

P1476

Galactose Epimerase Deficiency: Expanding the Phenotype

@en

P2093

Andrea Dias

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Jaak Jaeken

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Liesbeth Keldermans

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Luísa Diogo

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Petra A Mooijer

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Sacha Ferdinandusse

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P2860

Generalised uridine diphosphate galactose-4-epimerase deficiency

Molecular characterization of a unique patient with epimerase-deficiency galactosaemia

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.

Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.

Epimerase-deficiency galactosemia is not a binary condition.

Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency

Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia.

Generalized epimerase deficiency galactosemia.

Deficiency of uridine diphosphate galactose 4-epimerase in blood cells of an apparently healthy infant. Preliminary communication.

P304

19-25

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P31

scholarly article

P356

10.1007/8904_2017_10

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P478

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P50

P577

2017-03-01T00:00:00Z

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P698

28247339

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P932

5740041

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