UNIV São Paulo,DEPT BIOL,MIOPATIAS LAB,São Paulo,BRAZILESCOLA PAULISTA MED SCH,BIOQUIM LAB,BR-04023 São Paulo,BRAZILESCOLA PAULISTA MED SCH,BIOQUIM LAB,BR-04023 São Paulo,BRAZILWeb of Scienc
UNIV São Paulo,FAC MED,INST CRIANCA,DEPT PEDIAT,São Paulo,SP,BRAZILUNIV São Paulo,INST BIOCIENCIAS,D...
Associations between clinical phenotype (muscle weakness, dilated cardiomyopathy) and dystrophin abn...
Duchenne/Becker muscular dystrophy (DMD/BMD) is the most common form of muscular dystrophy, accounti...
Glycerol kinase deficiency (GKD, MIM 307030) is an X-linked recessive inborn error of metabolism occ...
Four unrelated patients with glyceroluria ranging from 7 to 170 mmol/l were studied. The activity of...
A syndrome of Duchenne muscular dystrophy (DMD), adrenal hypoplasia, glycerol kinase deficiency, and...
We demonstrate that isolated glycerol kinase (GK) deficiency in three families results from mutation...
Complex glycerol kinase deficiency usually presents with Duchenne muscular dystrophy, glycerol kinas...
We assessed the quantity (relative cellular abundance) and quality (approximate molecular weight) of...
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorde...
Clinical follow-up of a case of complex glycerol kinase deficiency with severe body-growth and psych...
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorde...
Muscle biopsy specimens from 30 muscular dystrophy patients were examined for a deficiency of adhali...
The application of molecular diagnostic techniques has greatly improved the diagnosis, carrier detec...
X-linked recessive disorder that presents in both iso-lated and complex forms. The contiguous deleti...
UNIV São Paulo,FAC MED,INST CRIANCA,DEPT PEDIAT,São Paulo,SP,BRAZILUNIV São Paulo,INST BIOCIENCIAS,D...
Associations between clinical phenotype (muscle weakness, dilated cardiomyopathy) and dystrophin abn...
Duchenne/Becker muscular dystrophy (DMD/BMD) is the most common form of muscular dystrophy, accounti...
Glycerol kinase deficiency (GKD, MIM 307030) is an X-linked recessive inborn error of metabolism occ...
Four unrelated patients with glyceroluria ranging from 7 to 170 mmol/l were studied. The activity of...
A syndrome of Duchenne muscular dystrophy (DMD), adrenal hypoplasia, glycerol kinase deficiency, and...
We demonstrate that isolated glycerol kinase (GK) deficiency in three families results from mutation...
Complex glycerol kinase deficiency usually presents with Duchenne muscular dystrophy, glycerol kinas...
We assessed the quantity (relative cellular abundance) and quality (approximate molecular weight) of...
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorde...
Clinical follow-up of a case of complex glycerol kinase deficiency with severe body-growth and psych...
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorde...
Muscle biopsy specimens from 30 muscular dystrophy patients were examined for a deficiency of adhali...
The application of molecular diagnostic techniques has greatly improved the diagnosis, carrier detec...
X-linked recessive disorder that presents in both iso-lated and complex forms. The contiguous deleti...
UNIV São Paulo,FAC MED,INST CRIANCA,DEPT PEDIAT,São Paulo,SP,BRAZILUNIV São Paulo,INST BIOCIENCIAS,D...
Associations between clinical phenotype (muscle weakness, dilated cardiomyopathy) and dystrophin abn...
Duchenne/Becker muscular dystrophy (DMD/BMD) is the most common form of muscular dystrophy, accounti...
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