Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

European Journal of Human Genetics

Volumn 22, Issue 7, 2014, Pages 888-895

  Gardeitchik, Thatjana ^a   Mohamed, Miski ^a   Fischer, Björn ^b   Lammens, Martin ^a   Lefeber, Dirk ^a   Lace, Baiba ^c   Parker, Michael ^d   Kim, Ki Joong ^e   Lim, Bing C ^e   Häberle, Johannes ^f   Garavelli, Livia ^g   Jagadeesh, Sujatha ^h   Kariminejad, Ariana ⁱ   Guerra, Deanna ^j   Leão, Michel ^k   Keski Filppula, Riikka ^l   Brunner, Han ^a   Nijtmans, Leo ^a   Van Den Heuvel, Bert ^a   Wevers, Ron ^a   Kornak, Uwe ^b,m   Morava, Eva ^a,n   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c CHILDREN'S CLINICAL UNIVERSITY HOSPITAL   (Latvia)

^d SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^e Seoul National University Hospital   (South Korea)

^f UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^g S MARIA NUOVA HOSPITAL   (Italy)

^h Department of Clinical Genetics ^*  (India)

ⁱ Kariminejad and Najmabadi Pathology and Genetics Center   (Iran)

^j UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^k HOSPITAL DE SÃO JOÃO   (Portugal)

^l OULU UNIVERSITY HOSPITAL   (Finland)

^m MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

ⁿ TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

Cutis laxa; Inborn errors of glycosylation; Metabolic; Mitochondrial function; Mutation; Neurologic

Indexed keywords

ADOLESCENT; ADULT; ALDH18A1 GENE; ARTICLE; ATP6V0A2 GENE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CORPUS CALLOSUM AGENESIS; CUTIS LAXA; DEVELOPMENTAL DISORDER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA SEQUENCE; DYSTONIA; EPILEPSY; EYE EXAMINATION; FACE DYSMORPHIA; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GLYCOSYLATION; GORAB GENE; HISTOLOGY; HUMAN; HUMAN TISSUE; INBORN ERROR OF METABOLISM; LABORATORY TEST; METABOLIC DISORDER; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NEUROIMAGING; NEUROLOGIC DISEASE; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROSPECTIVE STUDY; PYCR1 GENE; RIN2 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY; SPASTICITY; VISUAL IMPAIRMENT; WHITE MATTER LESION; AGENESIS OF CORPUS CALLOSUM; FEMALE; GENETICS; MALE; METABOLISM; PATHOLOGY; PRESCHOOL CHILD;

ALDEHYDE DEHYDROGENASE; CARRIER PROTEIN; DELTA-1-PYRROLINE-5-CARBOXYLATE REDUCTASE; GUANINE NUCLEOTIDE EXCHANGE FACTOR; MT-ATP6 PROTEIN, HUMAN; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; PYRROLINE 5 CARBOXYLATE REDUCTASE; RIN2 PROTEIN, HUMAN;

ADOLESCENT; AGENESIS OF CORPUS CALLOSUM; ALDEHYDE DEHYDROGENASE; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CUTIS LAXA; EPILEPSY; FEMALE; GLYCOSYLATION; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; MALE; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; PROSPECTIVE STUDIES; PYRROLINE CARBOXYLATE REDUCTASES;

EID: 84902343865     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.154     Document Type: Article

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