Neu-laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the l-serine biosynthesis pathway

American Journal of Human Genetics

Volumn 95, Issue 3, 2014, Pages 285-293

  Acuna Hidalgo, Rocio ^a   Schanze, Denny ^b   Kariminejad, Ariana ^c   Nordgren, Ann ^d,e   Kariminejad, Mohamad Hasan ^c   Conner, Peter ^e   Grigelioniene, Giedre ^d,e   Nilsson, Daniel ^d,e   Nordenskjold, Magnus ^d,e   Wedell, Anna ^d,e   Freyer, Christoph ^d,e   Wredenberg, Anna ^d,e   Wieczorek, Dagmar ^f   Gillessen Kaesbach, Gabriele ^g   Kayserili, Hulya ^h   Elcioglu, Nursel ⁱ   Ghaderi Sohi, Siavash ^j   Goodarzi, Payman ^k   Setayesh, Hamidreza ^l   Van De Vorst, Maartje ^j   Steehouwer, Marloes ^a   Pfundt, Rolph ^b   Krabichler, Birgit ^a   Curry, Cynthia ^c   MacKenzie, Malcolm G ^a   Boycott, Kym M ^e   Gilissen, Christian ^a   Janecke, Andreas R ^a   Hoischen, Alexander ^a   Zenker, Martin ^b   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^c Kariminejad Najmabadi Pathology and Genetics Center   (Iran)

^d KAROLINSKA INSTITUTE   (Sweden)

^e KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^f UNIVERSITY HOSPITAL ESSEN   (Germany)

^g UNIVERSITY OF LÜBECK   (Germany)

^h ISTANBUL UNIVERSITY   (Turkey)

ⁱ MARMARA UNIVERSITY   (Turkey)

^j INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^k UNIVERSITY OF CALIFORNIA   (United States)

^l CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINOTRANSFERASE; PHOSPHOSERINE AMINOTRANSFERASE; SERINE; UNCLASSIFIED DRUG; PHOSPHATASE; PHOSPHOGLYCERATE DEHYDROGENASE; PHOSPHOSERINE PHOSPHATASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 9; CLINICAL ARTICLE; COHORT ANALYSIS; ENZYME SYNTHESIS; FAMILY; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; LETHALITY; METABOLIC DISORDER; MISSENSE MUTATION; NEU LAXOVA SYNDROME; PRIORITY JOURNAL; AMINO ACID SEQUENCE; BIOSYNTHESIS; BRAIN DISEASE; CHEMISTRY; CONSANGUINITY; FEMALE; GENETICS; HOMOZYGOTE; ICHTHYOSIS; INTRAUTERINE GROWTH RETARDATION; LIMB MALFORMATION; MALE; METABOLISM; MICROCEPHALY; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; MUTATION; PROTEIN CONFORMATION; SEQUENCE HOMOLOGY;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BRAIN DISEASES; CONSANGUINITY; FAMILY; FEMALE; FETAL GROWTH RETARDATION; HOMOZYGOTE; HUMANS; ICHTHYOSIS; LIMB DEFORMITIES, CONGENITAL; MALE; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MUTATION; PHOSPHOGLYCERATE DEHYDROGENASE; PHOSPHORIC MONOESTER HYDROLASES; PROTEIN CONFORMATION; SEQUENCE HOMOLOGY, AMINO ACID; SERINE; TRANSAMINASES;

EID: 84908242138     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.07.012     Document Type: Article

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