Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency

Molecular Genetics and Metabolism

Volumn 107, Issue 3, 2012, Pages 611-613

  Honzík, Tomáš ^a,b   Magner, Martin ^b   Krijt, Jakub ^a   Sokolová, Jitka ^a   Vugrek, Oliver ^c   Belužić, Robert ^c   Barić, Ivo ^d   Hansíkova, Hana ^b   Elleder, Milan ^a   Veselá, Kateřina ^b   Bauerová, Lenka ^b   Ondrušková, Nina ^b   Ješina, Pavel ^a   Zeman, Jiří ^a,b   Kožich, Viktor ^a  

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c RUDER BO KOVI INSTITUTE   (Croatia)

^d UNIVERSITY OF ZAGREB   (Croatia)

Author keywords

Congenital disorders of glycosylation; Phosphomannomutase 2; S adenosylhomocysteine; S adenosylhomocysteine hydrolase; S adenosylmethionine

Indexed keywords

ADENOSYLHOMOCYSTEINASE; ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CREATINE; CREATINE KINASE; FRESH FROZEN PLASMA; HOMOCYSTEINE; METHIONINE; PHOSPHOMANNOMUTASE; PHOSPHOMANNOMUTASE 2; S ADENOSYLHOMOCYSTEINE; S ADENOSYLMETHIONINE; UNCLASSIFIED DRUG; VITAMIN K GROUP;

ACUTE GASTROENTERITIS; AHCY GENE; ALANINE AMINOTRANSFERASE BLOOD LEVEL; AREFLEXIA; ARTICLE; ARTIFICIAL VENTILATION; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BIRTH WEIGHT; BODY HEIGHT; CASE REPORT; CAUCASIAN; CELL DAMAGE; CELL MEMBRANE; CHILD; CONTROLLED STUDY; CONVERGENT STRABISMUS; CREATINE KINASE BLOOD LEVEL; DECOMPENSATED LIVER CIRRHOSIS; DEHYDRATION; DEVELOPMENTAL DISORDER; DISSEMINATED INTRAVASCULAR CLOTTING; ELECTRON MICROSCOPY; ENDOTHELIUM CELL; ENZYME DEFICIENCY; ERYTHROCYTE; FEMALE; FIBROBLAST; GENE; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; INTERNATIONAL NORMALIZED RATIO; INTUBATION; MICROCEPHALY; MUSCLE HYPOTONIA; NOSE FEEDING; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SKIN BIOPSY; SKIN FIBROBLAST; SUCKING; VOCALIZATION;

ADENOSYLHOMOCYSTEINASE; CONGENITAL DISORDERS OF GLYCOSYLATION; DIAGNOSIS, DIFFERENTIAL; ERYTHROCYTES; FEMALE; FIBROBLASTS; HETEROZYGOTE; HOMOCYSTEINE; HUMANS; INFANT, NEWBORN; METHIONINE; MUTATION; PHOSPHOTRANSFERASES (PHOSPHOMUTASES);

EID: 84867901286     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.08.014     Document Type: Article

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