Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional study

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Epidemiology of mucopolysaccharidoses.X-chromosome inactivation in female patients with Fabry disease.

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Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional study

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2013 nî lūn-bûn

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2013年論文

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Clinical manifestations in fem ...... Spanish cross-sectional study

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Clinical manifestations in fem ...... Spanish cross-sectional study

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Clinical manifestations in fem ...... Spanish cross-sectional study

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P1476

Clinical manifestations in fem ...... Spanish cross-sectional study

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Carlos Alcalde-Martín

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Enrique Galán-Gómez

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María Rosario Domingo-Jiménez

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Olga Alonso-Luengo

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Ramón Cancho-Candela

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P2860

Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

Inheritance of most X-linked traits is not dominant or recessive, just X-linked

Gene action in the X-chromosome of the mouse (Mus musculus L.)

Segregation and sporadic cases in families with Hunter's syndrome.

Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.

High resolution of human chromosomes.

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age.

Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl

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1750-1172-8-92

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scholarly article

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10.1186/1750-1172-8-92

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Encarna Guillén-Navarro

María L Couce

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2013-06-25T00:00:00Z

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242016323

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1043499344

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23800320

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3697996

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Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional study

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P2860

P2860

Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional study

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P478

P50

P577

P5875

P6179

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P478

P50

P577

P5875

P6179

P698

P932