Propionic acidemia: Clinical course and outcome in 55 pediatric and adolescent patients

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Grünert, Sarah C ^a   Müllerleile, Stephanie ^a   De Silva, Linda ^a   Barth, Michael ^a   Walter, Melanie ^a   Walter, Kerstin ^a   Meissner, Thomas ^d   Lindner, Martin ^e   Ensenauer, Regina ^f   Santer, René ^g   Bodamer, Olaf A ^h,i   Baumgartner, Matthias R ^b   Brunner Krainz, Michaela ^j   Karall, Daniela ^k   Haase, Claudia ^l,m   Knerr, Ina ⁿ   Marquardt, Thorsten ^o   Hennermann, Julia B ^p   Steinfeld, Robert ^q   Beblo, Skadi ^r   Koch, Hans Georg ^s   Konstantopoulou, Vassiliki ^h   Scholl Bürgi, Sabine ^k   Van Teeffelen Heithoff, Agnes ^o   Suormala, Terttu ^t   Sperl, Wolfgang ^u   Kraus, Jan P ^v   Superti Furga, Andrea ^a,c   Schwab, Karl Otfried ^a   Sass, Jörn Oliver ^a,b   more..

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^d UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^e UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^f LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^g UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^h MEDICAL UNIVERSITY OF VIENNA   (Austria)

ⁱ UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^j MEDICAL UNIVERSITY OF GRAZ   (Austria)

^k Universitatsklinik fur Kinder und Jugendheilkunde Innsbruck   (Austria)

^l JENA UNIVERSITY HOSPITAL   (Germany)

^m HELIOS KLINIKUM ERFURT   (Germany)

ⁿ CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^o UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^p CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^q UNIVERSITY OF GÖTTINGEN   (Germany)

^r UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^s KLINIKUM BRAUNSCHWEIG   (Germany)

^t UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^u PARACELSUS MEDICAL UNIVERSITY   (Austria)

^v Children's Hospital Colorado   (United States)

more..

Author keywords

Branched chain amino acids; Clinical course; IQ; Long term complications; Neurocognitive development; Outcome; Physical development; Propionic acidemia; Propionyl coenzyme A carboxylase deficiency; Quality of life

Indexed keywords

CARNITINE; COLISTIN; METRONIDAZOLE;

ADOLESCENT; ADULT; ANEMIA; ANTIBIOTIC THERAPY; ARTICLE; BONE AGE; CARDIOMYOPATHY; CARNITINE DEFICIENCY; CHILD; CLINICAL FEATURE; CLINICAL STUDY; COGNITION; DISEASE COURSE; FEEDING DISORDER; FEMALE; HEARING DISORDER; HUMAN; INFANT; INTELLIGENCE QUOTIENT; INTESTINE FLORA; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; NEUTROPENIA; NEWBORN; NEWBORN SCREENING; OPTIC NERVE ATROPHY; OSTEOPOROSIS; OUTCOME ASSESSMENT; PANCREATITIS; PANCYTOPENIA; PHYSICAL DEVELOPMENT; PRESCHOOL CHILD; PROPIONIC ACIDEMIA; PSYCHOMOTOR DEVELOPMENT; QUALITY OF LIFE; RETROSPECTIVE STUDY; SCHOOL CHILD; SPEECH DISORDER; SYMPTOM; THROMBOCYTOPENIA;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; COGNITION; FEMALE; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; PROPIONIC ACIDEMIA; PSYCHOMOTOR PERFORMANCE; QUALITY OF LIFE; RETROSPECTIVE STUDIES; TREATMENT OUTCOME;

EID: 84872114602     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-6     Document Type: Article

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