Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia)-Reference-Cited by-同舟云学术

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Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia)

Published:2011-10-20 Issue:2 Volume:11 Page:557-563
ISSN:1473-4222
Container-title:The Cerebellum
language:en
Short-container-title:Cerebellum

Author:

Casado M.,O’Callaghan M. M.,Montero R.,Pérez-Cerda C.,Pérez B.,Briones P.,Quintana E.,Muchart J.,Aracil A.,Pineda M.,Artuch R.

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s12311-011-0313-y.pdf

Reference28 articles.

1. Jaeken J, Vanderschueren-Lodeweyckx M, Casaer P, Snoeck L, Corbeel L, Eggermont E, et al. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulfatase-A and increased CSF protein—new syndrome? Pediatr Res. 1980;14:179.

2. Marquardt T, Denecke J. Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. Eur J Pediatr. 2003;162:359–79.

3. Imtiaz F, Worthington V, Champion M, Beesley C, Charlwood J, Clayton P, et al. Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. J Inherit Metab Dis. 2000;23:162–74.

4. Enns GM, Steiner RD, Buist N, Cowan C, Leppig KA, McCracken MF, et al. Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. J Pediatr. 2002;141:695–700.

5. Briones P, Vilaseca MA, Schollen E, Ferrer I, Maties M, Busquets C, et al. Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia. J Inherit Metab Dis. 2002;25:635–46.

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2. Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort;Molecular Genetics and Metabolism;2024-08

3. Revisiting the immunopathology of congenital disorders of glycosylation: an updated review;Frontiers in Immunology;2024-03-14

4. Biochemical diagnosis of congenital disorders of glycosylation;Advances in Clinical Chemistry;2024

5. A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism;The Cerebellum;2023-05-08

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