A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal pres...
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients
About this item
Full title
Author / Creator
Pronicka, Ewa , Ropacka-Lesiak, Mariola , Trubicka, Joanna , Pajdowska, Magdalena , Linke, Markus , Ostergaard, Elsebet , Saunders, Carol , Horsch, Sandra , van Karnebeek, Clara , Yaplito-Lee, Joy , Distelmaier, Felix , Õunap, Katrin , Rahman, Shamima , Castelle, Martin , Kelleher, John , Baris, Safa , Iwanicka-Pronicka, Katarzyna , Steward, Colin G. , Ciara, Elżbieta , Wortmann, Saskia B. and Additional individual contributors
Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
Formats
Publication information
Publisher
Dordrecht: Springer Netherlands
Subjects
More information
Scope and Contents
Contents
Recently, CLPB deficiency has been shown to cause a genetic syndrome with cataracts, neutropenia, and 3-methylglutaconic aciduria. Surprisingly, the neurological presentation ranges from completely unaffected to patients with virtual absence of development. Muscular hypo- and hypertonia, movement disorder and progressive brain atrophy are frequentl...
Alternative Titles
Full title
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients
Authors, Artists and Contributors
Author / Creator
Ropacka-Lesiak, Mariola
Trubicka, Joanna
Pajdowska, Magdalena
Linke, Markus
Ostergaard, Elsebet
Saunders, Carol
Horsch, Sandra
van Karnebeek, Clara
Yaplito-Lee, Joy
Distelmaier, Felix
Õunap, Katrin
Rahman, Shamima
Castelle, Martin
Kelleher, John
Baris, Safa
Iwanicka-Pronicka, Katarzyna
Steward, Colin G.
Ciara, Elżbieta
Wortmann, Saskia B.
Additional individual contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1917363245
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1917363245
Other Identifiers
ISSN
0141-8955
E-ISSN
1573-2665
DOI
10.1007/s10545-017-0057-z
