Multiple phenotypes in phosphoglucomutase 1 deficiency

New England Journal of Medicine

Volumn 370, Issue 6, 2014, Pages 533-542

  Tegtmeyer, L C ^a   Rust, S ^b   Van Scherpenzeel, M ^e   Ng, B G ^g   Losfeld, M E ^g   Timal, S ^e   Raymond, K ^h   He, P ^g   Ichikawa, M ^g   Veltman, J ^e   Huijben, K ^e   Shin, Y S ^c   Sharma, V ^g   Adamowicz, M ⁱ   Lammens, M ^e   Reunert, J ^a   Witten, A ^b   Schrapers, E ^a   Matthijs, G ^j   Jaeken, J ^j   Rymen, D ^j   Stojkovic, T ^o   Laforet P ^o   Petit, F ^p   Aumaitre O ^q   Czarnowska, E ⁱ   Piraud, M ^r   Podskarbi, T ^c   Stanley, C A ^s   Matalon, R ^t   Burda, P ^u   Seyyedi, S ^d   Debus, V ^a   Socha, P ⁱ   Sykut Cegielska, J ⁱ   Van Spronsen, F ^f   De Meirleir, L ^m   Vajro, P ^v   DeClue, T ^w   Ficicioglu, C ^s   Wada, Y ^x   Wevers, R A ^e   Vanderschaeghe, D ^k,l   Callewaert, N ^k,l   Fingerhut, R ^u   Van Schaftingen, E ⁿ   Freeze, H H ^g   Morava, E ^y   Lefeber, D J ^e   Marquardt, T ^a   more..

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b Leibniz Institut für Arterioskleroseforschung   (Germany)

^c Molecular Genetics and Metabolism Laboratory   (Germany)

^d City Medical Center   (Germany)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f UNIVERSITY OF GRONINGEN   (Netherlands)

^g BURNHAM INSTITUTE   (United States)

^h Mayo Clinic   (United States)

ⁱ CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^j UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^k GHENT UNIVERSITY   (Belgium)

^l DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^m FREE UNIVERSITY OF BRUSSELS   (Belgium)

ⁿ DE DUVE INSTITUTE   (Belgium)

^o ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^p HÔPITAL ANTOINE BÉCLÈRE   (France)

^q SERVICE DE RHUMATOLOGIE   (France)

^r HOSPICES CIVILS DE LYON   (France)

^s CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^t UNIVERSITY OF TEXAS MEDICAL BRANCH   (United States)

^u UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^v UNIVERSITY OF SALERNO   (Italy)

^w UNIVERSITY OF SOUTH FLORIDA   (United States)

^x RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^y TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSE; GLYCAN; GLYCOGEN; GLYCOPROTEIN; PHOSPHOGLUCOMUTASE; TRANSFERRIN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARBOHYDRATE METABOLISM; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; DIET SUPPLEMENTATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXOME; FEMALE; FIBROBLAST CULTURE; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GLYCOSYLATION; GROWTH RETARDATION; HEART ARREST; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOGLYCEMIA; HYPOGONADOTROPIC HYPOGONADISM; LIVER DISEASE; MALE; MALIGNANT HYPERTHERMIA; MASS SPECTROMETRY; MYOPATHY; PALATE MALFORMATION; PGM1 GENE; PHENOTYPE; PHOSPHOGLUCOMUTASE 1 DEFICIENCY; PRIORITY JOURNAL; PROTEIN SYNTHESIS; QUANTITATIVE STUDY; SCREENING TEST; SUPPLEMENTATION;

EID: 84893589222     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1206605     Document Type: Article

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