Mild clinical and biochemical phenotype in two patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia)

Cerebellum

Volumn 11, Issue 2, 2012, Pages 557-563

  Casado, M ^a,d   O'Callaghan, M M ^a,b   Montero, R ^a,b   Perez Cerda C ^b,c   Perez B ^b,c   Briones, P ^b,c   Quintana, E ^c   Muchart, J ^a   Aracil, A ^a   Pineda, M ^a,b   Artuch, R ^a,b  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c CSIC   (Spain)

^d UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

Author keywords

Cerebellar atrophy; Congenital disorders of glycosylation; Pediatric patients; PMM2 CDG; Sialotransferrin

Indexed keywords

ASIALOTRANSFERRIN; DISIALOTRANSFERRIN; PHOSPHOMANNOMUTASE; PHOSPHOMANNOMUTASE 2; TRANSFERRIN; UNCLASSIFIED DRUG;

CASE REPORT; CEREBELLUM ATROPHY; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CLINICAL CLASSIFICATION; CLINICAL FEATURE; CONFERENCE PAPER; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; CONVERGENT STRABISMUS; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; INFANT; LIPODYSTROPHY; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPIC VARIATION; PHOSPHOMANNOMUTASE 2 DEFICIENCY; PHOSPHOMANNOMUTASE 2 GENE; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; TREMOR;

BRAIN; CEREBELLUM; CONGENITAL DISORDERS OF GLYCOSYLATION; DEVELOPMENTAL DISABILITIES; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROBLASTS; GAIT DISORDERS, NEUROLOGIC; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; INFANT; ISOELECTRIC FOCUSING; LIPODYSTROPHY; MAGNETIC RESONANCE IMAGING; NEUROLOGIC EXAMINATION; PHENOTYPE; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); TRANSFERRIN;

EID: 84864696788     PISSN: 14734222     EISSN: 14734230     Source Type: Journal    
DOI: 10.1007/s12311-011-0313-y     Document Type: Conference Paper

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