| Title |
Congenital disorder of glycosylation (CDG) type Ie. A new patient
|
|---|---|
| Published in |
Journal of Inherited Metabolic Disease, September 2004
|
| DOI | 10.1023/b:boli.0000042984.42433.d8 |
| Pubmed ID | |
| Authors |
M. T. García‐Silva, G. Matthijs, E. Schollen, J. C. Cabrera, J. Sanchez del Pozo, M. Martí Herreros, R. Simón, M. Maties, E. Martín Hernández, T. Hennet, P. Briones |
| Abstract |
CDG Ie is caused by a deficiency of dolichol-phosphate-mannose synthase 1 (DPM1), an enzyme involved in N-glycan assembly in the endoplasmic reticulum. Three proteins are known to be part of the synthase complex: DPM 1, DPM2 and DPM3. Only mutations in DPM1, the catalytic subunit, have been described in three families. One was homozygous for the c274C>G (R92G) mutation in DPM1 and two others were compound heterozygous for R92G and a c628delC deletion or a c331-343del13, respectively. Clinical features were a severe infantile encephalopathy, early intractable seizures, acquired microcephaly, and some dysmorphic features. We report a patient with milder symptoms: microcephaly, dysmorphic features, developmental delay, optic atrophy, and cerebellar dysfunction without cerebellar atrophy. The patient is homozygous for a new mutation in exon 9 of the DPM1 gene (c742T>C (S248P)). Our findings extend the spectrum of CDG Ie. |
Mendeley readers
The data shown below were compiled from readership statistics for 32 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 3% |
| Unknown | 31 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 9 | 28% |
| Student > Bachelor | 5 | 16% |
| Student > Ph. D. Student | 5 | 16% |
| Other | 3 | 9% |
| Researcher | 2 | 6% |
| Other | 3 | 9% |
| Unknown | 5 | 16% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 7 | 22% |
| Chemistry | 7 | 22% |
| Agricultural and Biological Sciences | 6 | 19% |
| Nursing and Health Professions | 1 | 3% |
| Business, Management and Accounting | 1 | 3% |
| Other | 4 | 13% |
| Unknown | 6 | 19% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 04 November 2023.
All research outputs
#8,269,153
of 24,752,377 outputs
Outputs from Journal of Inherited Metabolic Disease
#768
of 1,964 outputs
Outputs of similar age
#22,075
of 67,767 outputs
Outputs of similar age from Journal of Inherited Metabolic Disease
#6
of 13 outputs
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