Clinical Presentation and Natural Course of the Carbohydrate-deficient Glycoprotein Syndrome
Author:
Publisher
Wiley
Subject
General Medicine,Pediatrics, Perinatology, and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1651-2227.1991.tb12023.x/fullpdf
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1. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90
2. Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome
3. Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.
4. A Newly Recognized Inherited Neurological Disease with Carbohydrate Deficient Secretory Glycoproteins
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