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Glycogen storage disease type Ib without neutropenia.
We report 2 patients with atypical glycogen storage disease type Ib without neutropenia or infectious complications. Neither patient was deficient in hepatic glucose-6-phosphatase activities inExpand
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CAG repeat length of the androgen receptor gene in Japanese males with cryptorchidism.
We have analysed the CAG repeat length in exon 1 of the androgen receptor gene in 48 Japanese males with cryptorchidism and 100 fertile Japanese males. The CAG repeat length was 23.4 +/- 0.48 (meanExpand
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Undermasculinized genitalia in a boy with an abnormally expanded CAG repeat length in the androgen receptor gene★
We report an 11‐year‐old boy with undermasculinized genitalia and an abnormally expanded CAG repeat length at exon 1 of the androgen receptor (AR) gene. He had microphallus and scrotal hypospadiasExpand
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Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group.
We describe the clinical, pathologic, and biochemical findings for two peroxisome-deficient patients in a newly identified complementation group. Both patients had biochemical findings typical ofExpand
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A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules.
We report a new variant type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, gastroesophageal reflux, and fibrous thickening of splenic and hepatic capsules.Expand
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Reference intervals for serum granulocyte colony-stimulating factor levels in children.
OBJECTIVE To determine age-adjusted reference intervals for children for serum granulocyte colony-stimulating factor (G-CSF) levels. DESIGN We determined the serum G-CSF levels of 168 disease-freeExpand
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Peroxisomal disorders in children: immunohistochemistry and neuropathology.
Immunohistochemical studies with antisera against four peroxisomal enzymes, catalase and beta-oxidation enzymes (acyl-coenzyme A oxidase, bifunctional protein, and 3-ketoacyl-CoA thiolase), wereExpand
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Urinary excretion of pyridinoline and deoxypyridinoline measured by immunoassay in hypothyroidism
OBJECTIVE We measured pyridinium cross‐links, markers of bone resorption, by an enzyme‐linked immunosorbent assay (ELISA) in hypothyroid patients to see whether bone resorption was reduced inExpand
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D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes.
Fetal abnormalities including chylous ascites, polyhydramnios, claw hands, and hammer toes were identified in an infant who had a missense mutation R106P and a 52bp deletion in the gene for aExpand
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