Congenital ichthyosis in severe type II gaucher disease with a homozygous null mutation

Neonatology

Volumn 100, Issue 2, 2011, Pages 194-197

  Haverkaemper, Sabine ^a   Marquardt, Thorsten ^b   Hausser, Ingrid ^c   Timme, Katharina ^a   Kuehn, Thomas ^a   Hertzberg, Christoph ^a   Rossi, Rainer ^a  

^a VIVANTES KLINIKUM NEUKÖLLN   (Germany)

^b UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^c UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

Collodion baby; Gaucher disease; Glucocerebrosidase; Null mutation

Indexed keywords

GLUCOSYLCERAMIDASE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; ELECTRON MICROSCOPY; GAUCHER DISEASE; GENE MUTATION; HUMAN; HUMAN TISSUE; ICHTHYOSIS; LABORATORY TEST; NEWBORN; PRIORITY JOURNAL; SKIN BIOPSY;

BIOPSY; FATAL OUTCOME; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HOMOZYGOTE; HUMANS; ICHTHYOSIS; INFANT, NEWBORN; PHENOTYPE; SEQUENCE DELETION; SEVERITY OF ILLNESS INDEX; SKIN;

EID: 79953229259     PISSN: 16617800     EISSN: 16617819     Source Type: Journal    
DOI: 10.1159/000324116     Document Type: Article

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