Metabolic cutis laxa syndromes

Journal of Inherited Metabolic Disease

Volumn 34, Issue 4, 2011, Pages 907-916

  Mohamed, Miski ^a   Kouwenberg, Dorus ^a   Gardeitchik, Thatjana ^a   Kornak, Uwe ^b   Wevers, Ron A ^a   Morava, Eva ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; ELASTIN; PYRROLINE 5 CARBOXYLATE REDUCTASE; PYRROLINE 5 CARBOXYLATE REDUCTASE 1; PYRROLINE 5 CARBOXYLATE SYNTHASE; SYNTHETASE; UNCLASSIFIED DRUG;

AUTOSOMAL RECESSIVE DISORDER; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2; CUTIS LAXA; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; ELASTIC FIBER; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXTRACELLULAR MATRIX; GENE; GOLGI COMPLEX; HUMAN; MENKES SYNDROME; METABOLIC CUTIS LAXA SYNDROME; METABOLIC DISORDER; MISSENSE MUTATION; MOLECULAR PATHOLOGY; NONHUMAN; OXIDATIVE STRESS; PROTEIN GLYCOSYLATION; PROTEIN SYNTHESIS; REVIEW; RIN2 GENE; WRINKLE;

CARRIER PROTEINS; CONGENITAL DISORDERS OF GLYCOSYLATION; CUTIS LAXA; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; MENKES KINKY HAIR SYNDROME; METABOLIC NETWORKS AND PATHWAYS; MODELS, BIOLOGICAL; ORNITHINE-OXO-ACID TRANSAMINASE; PYRROLINE CARBOXYLATE REDUCTASES; SYNDROME;

EID: 79961166633     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9305-9     Document Type: Review

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