Google Scholar

Emery-Dreifuss muscular dystrophy

G Bonne, F Leturcq, RB Yaou - Gene Reviews, 2019 - hal.sorbonne-universite.fr

Clinical characteristics Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the
clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle …

Save Cite Cited by 88 Related articles All 8 versions View as HTML

[PDF] apache.org

[PDF][PDF] The organic acidemias: an overview

MR Seashore - Gene reviews, 2009 - corpora.tika.apache.org

Disease characteristics. The term" organic acidemia" or" organic aciduria"(OA) applies to a
group of disorders characterized by the excretion of non-amino organic acids in urine. Most …

Save Cite Cited by 39 Related articles View as HTML

[PDF] apache.org

[PDF][PDF] Cleidocranial dysplasia

R Mendoza-Londono, B Lee - Gene Reviews, 1993 - corpora.tika.apache.org

Disease characteristics. Cleidocranial dysplasia (designated as CCD in this GeneReview) is
a skeletal dysplasia characterized by delayed closure of the cranial sutures, hypoplastic or …

Save Cite Cited by 42 Related articles View as HTML

[PDF] uwec.edu

[PDF][PDF] Urea cycle disorders overview

ML Summar, M Tuchman - Gene Reviews, 2005 - chem.uwec.edu

Disease characteristics. The urea cycle disorders (UCD) result from defects in the metabolism
of the extra nitrogen produced by the breakdown of protein and other nitrogecontaining …

Save Cite Cited by 24 Related articles All 4 versions View as HTML

[PDF] apache.org

[PDF][PDF] Mucopolysaccharidosis type II

R Martin - Gene Reviews, 1993 - corpora.tika.apache.org

Disease characteristics. Mucopolysaccharidosis type II (MPS II; also known as Hunter
syndrome) is a multisystem disorder characterized by glycosaminoglycans (GAG) accumulation. …

Save Cite Cited by 7 Related articles All 2 versions View as HTML