Congenital disorders of glycosylation with neonatal presentation

BMJ Case Reports

Volumn , Issue , 2014, Pages

  Resende, Catarina ^a   Carvalho, Carmen ^a   Alegria, Artur ^a   Oliveira, Dulce ^a   Quelhas, Dulce ^b   Bandeira, Anabela ^a   Proença, Elisa ^a  

^a Oporto Medical Faculty   (Portugal)

^b Genetic Center   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; PHOSPHOMANNOMUTASE; PHOSPHOMANNOMUTASE 2; PROPRANOLOL; UNCLASSIFIED DRUG;

ARACHNODACTYLY; ARTICLE; BODY FAT DISTRIBUTION; CASE REPORT; CHILD DEATH; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; DNA FLANKING REGION; ECHOCARDIOGRAPHY; FACE MALFORMATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INFANT; INFANTILE HYPOTONIA; MALE; MOLECULAR PATHOLOGY; NIPPLE MALFORMATION; NUCLEIC ACID BASE SUBSTITUTION; ONSET AGE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SYSTEMIC DISEASE;

EID: 84899637797     PISSN: None     EISSN: 1757790X     Source Type: Journal    
DOI: 10.1136/bcr-2013-010037     Document Type: Article

References (6)

1. Sparks SE, Krasnewich DM. PMM2-CDG (CDG-Ia) 2005 Aug 15 [Updated 2011 Apr 21]. In: Pagon RA, Adam MP, Bird TD, et al., eds. GeneReviews™ [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2013. http://www.ncbi.nlm.nih.gov/books/NBK1110
2. Grunewald S. The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia). Biochim Biophys Acta 2009;1792:827-34.
3. Noelle V, Knuepfer M, Pulzer V, et al. Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema. Eur J Pediatr 2005;164:223-6. (Pubitemid 40543791)
4. Clayton PT, Winchester BG, Keir G. Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-de ficient glycoprotein syndrome. J Inherit Metab Dis 1992;15:857-61. (Pubitemid 23023187)
5. Quelhas D, Quental R, Vilarinho L, et al. Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2. Ann Hum Genet 2007;71(Pt 3):348-53. (Pubitemid 46585677)
6. Sharma V, Ichikawa M, He P, et al. Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts. J Biol Chem 2011;286:39431-8.