(Q48829716)

15 February 2018

title

Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia). (English)

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15 February 2018

congenital disorder of glycosylation

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7

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author name string

M Casado

1

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15 February 2018

M M O'Callaghan

2

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15 February 2018

R Montero

3

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15 February 2018

C Pérez-Cerda

4

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15 February 2018

B Pérez

5

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15 February 2018

P Briones

6

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15 February 2018

J Muchart

8

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15 February 2018

A Aracil

9

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15 February 2018

M Pineda

10

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15 February 2018

R Artuch

11

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15 February 2018

publication date

1 June 2012

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15 February 2018

published in

The Cerebellum

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15 February 2018

volume

11

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15 February 2018

issue

2

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15 February 2018

page(s)

557-563

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15 February 2018

https://scigraph.springernature.com/pub.10.1007/s12311-011-0313-y

exact match

0 references

cites work

Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1

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Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.

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A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

21 January 2018

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Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12311-011-0313-Y

Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12311-011-0313-Y

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12311-011-0313-Y

Neurological Presentation in Pediatric Patients with Congenital Disorders of Glycosylation Type Ia

21 January 2018

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Posterior fossa imaging in 158 children with ataxia.

21 January 2018

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Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

21 January 2018

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Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin

21 January 2018

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Congenital disorder of glycosylation type Ia: benign clinical course in a new genetic variant.

21 January 2018

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Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype

21 January 2018

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Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease

21 January 2018

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Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.

21 January 2018

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The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations

21 January 2018

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12 December 2020

Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia

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Comparison between high performance liquid chromatography and capillary zone electrophoresis for the diagnosis of congenital disorders of glycosylation

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12 December 2020

Congenital disorder of glycosylation type Ia revealed by hypertransaminasemia and failure to thrive in a young boy with normal neurodevelopment

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12 December 2020

Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies

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12 December 2020

The microheterogeneity of human transferrins in biological fluids

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12 December 2020

Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I

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12 December 2020

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations

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Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia

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Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening

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12 December 2020

Carbohydrate-deficient glycoprotein syndrome: beyond the screen

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Screening for CDG type Ia in Joubert syndrome

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12 December 2020

Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern

1 reference

12 December 2020

10.1007/S12311-011-0313-Y

Identifiers

DOI

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15 February 2018

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15 February 2018