Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

Journal of Medical Genetics

Volumn 54, Issue 12, 2017, Pages 843-851

  Schiff, Manuel ^a,b   Roda, Céline ^c   Monin, Marie Lorraine ^d   Arion, Alina ^e   Barth, Magali ^c,f   Bednarek, Nathalie ^g   Bidet, Maud ^c   Bloch, Catherine ^h   Boddaert, Nathalie ^c,i,j   Borgel, Delphine ^c,f   Brassier, Anaïs ^c   Brice, Alexis ^k,l   Bruneel, Arnaud ^m   Buissonnière, Roger ⁿ   Chabrol, Brigitte ^o   Chevalier, Marie Chantal ^p   Cormier Daire, Valérie ^c,q,r   De Barace, Claire ^s   De Maistre, Emmanuel ^t   De Saint Martin, Anne ^u   Dorison, Nathalie ^v   Drouin Garraud, Valérie ^w   Dupré, Thierry ^aj   Echenne, Bernard ^x   Edery, Patrick ^y   Feillet, François ^z   Fontan, Isabelle ^aa   Francannet, Christine ^ab   Labarthe, François ^ac   Gitiaux, Cyril ^c   Héron, Delphine ^k   Hully, Marie ^c   Lamoureux, Sylvie ^ad   Martin Coignard, Dominique ^p   Mignot, Cyril ^d   Morin, Gilles ^ae   Pascreau, Tiffany ^c,f   Pincemaille, Olivier ^af   Polak, Michel ^c   Roubertie, Agathe ^aj   Thauvin Robinet, Christel ^ag   Toutain, Annick ^ah   Viot, Géraldine ^ai   Vuillaumier Barrot, Sandrine ^m   Seta, Nathalie ^m   De Lonlay, Pascale ^c   more..

^a HÔPITAL ROBERT DEBRÉ   (France)

^b INSERM   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e CAEN UNIVERSITY HOSPITAL   (France)

^f Dept Environ Med Natl Inst Publ HIth   (Norway)

^g REIMS UNIVERSITY HOSPITAL   (France)

^h Fondation Lenval Hopital pour Enfants   (France)

ⁱ Pitié Salpêtrière Hospital   (France)

^j CNRS   (France)

^k SORBONNE UNIVERSITÉ   (France)

^l INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^m BICHAT HOSPITAL   (France)

ⁿ CENTRE HOSPITALIER DE VERSAILLES   (France)

^o Timone Enfant Hospital   (France)

^p CENTRE HOSPITALIER DU MANS   (France)

^q IMAGINE INSTITUTE   (France)

^r UNIVERSITÉ PARIS DESCARTES   (France)

^s Saint Brieuc Hospital   (France)

^t Haematology Department   (France)

^u UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^v ARMAND TROUSSEAU HOSPITAL   (France)

^w ROUEN UNIVERSITY HOSPITAL   (France)

^x UNIV MONTPELLIER   (France)

^y HOSPICES CIVILS DE LYON   (France)

^z UNIVERSITÉ DE LORRAINE   (France)

^aa BORDEAUX UNIVERSITY HOSPITAL   (France)

^ab Clermont Ferrand Hospital   (France)

^ac UNIVERSITY HOSPITAL OF TOURS   (France)

^ad CENTRE HOSPITALIER D AVIGNON   (France)

^ae AMIENS UNIVERSITY HOSPITAL   (France)

^af Grasse Hospital   (France)

^ag Children Hospital   (France)

^ah CHU BRETONNEAU   (France)

^ai Amiens University Hospital ^*  (France)

^aj Grasse Hospital ^*

more..

Author keywords

CDG I; congenital disorders of glycosylation; phosphomannomutase; PMM2 CDG

Indexed keywords

ALANINE AMINOTRANSFERASE; ALBUMIN; AMINOTRANSFERASE; ANTITHROMBIN; BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 12; CHOLESTEROL; GLYCOPROTEIN; PHOSPHOMANNOMUTASE; PHOSPHOMANNOMUTASE 2; PROTEIN C; THYROTROPIN; UNCLASSIFIED DRUG; MUTASE; PHOSPHOMANNOMUTASE 2, HUMAN;

ABNORMAL LABORATORY RESULT; ARTICLE; ASCITES; ASTIGMATISM; BLOOD CLOTTING; BRAIN HEMORRHAGE; CARDIOMYOPATHY; CAUSE OF DEATH; CEREBELLUM ATROPHY; CEREBELLUM DISEASE; CHILD; CHRONIC DIARRHEA; CLINICAL ASSESSMENT; CLINICAL FEATURE; COHORT ANALYSIS; COLOBOMA; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL HEART MALFORMATION; CONGENITAL SKIN DISEASE; DEMYELINATING NEUROPATHY; DISEASE COURSE; EPILEPSY; FAILURE TO THRIVE; FEEDING DIFFICULTY; FEMALE; FETUS HYDROPS; FOLLOW UP; GENETIC HETEROGENEITY; HEPATOMEGALY; HUMAN; HYPERTRANSAMINASEMIA; HYPOALBUMINEMIA; HYPOCHOLESTEROLEMIA; INTELLECTUAL IMPAIRMENT; KIDNEY TUBULE DISORDER; KYPHOSIS; LABORATORY TEST; LIVER FAILURE; LONG TERM CARE; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; MUSCLE HYPOTONIA; MYOPIA; NEPHROTIC SYNDROME; NEUROLOGIC DISEASE; NUTRITIONAL SUPPORT; NYSTAGMUS; OCCLUSIVE CEREBROVASCULAR DISEASE; OPTIC NERVE ATROPHY; OSTEOPENIA; PERCEPTION DEAFNESS; PERICARDITIS; PERIPHERAL VEIN; PHENOTYPIC VARIATION; PORTAL HYPERTENSION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN LOSING GASTROENTEROPATHY; RETINITIS PIGMENTOSA; RETROSPECTIVE STUDY; SCOLIOSIS; SKELETON MALFORMATION; STRABISMUS; THORAX DEFORMITY; THROMBOSIS; VISCERA; VOMITING; ADOLESCENT; ALLELE; AMINO ACID SUBSTITUTION; CASE REPORT; GENETIC ASSOCIATION STUDY; GENETICS; INFANT; METABOLISM; MORTALITY; MUTATION; PHENOTYPE;

ADOLESCENT; ALLELES; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; CONGENITAL DISORDERS OF GLYCOSYLATION; FEMALE; FOLLOW-UP STUDIES; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE; PHOSPHOTRANSFERASES (PHOSPHOMUTASES);

EID: 85033500530     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2017-104903     Document Type: Article

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