Propionic acidemia consensus conference summary

Molecular Genetics and Metabolism

Volumn 105, Issue 1, 2012, Pages 3-4

  Chapman, Kimberly A ^a   Summar, Marshall L ^a  

^a CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

Inborn error of metabolism; Organic acidemia; Propionic acidemia

Indexed keywords

HUMAN; MEDICAL HISTORY; MORBIDITY; MORTALITY; NEUROLOGICAL COMPLICATION; NOTE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PATIENT MONITORING; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; SCREENING;

CONSENSUS DEVELOPMENT CONFERENCES AS TOPIC; HEALTH PLANNING GUIDELINES; HUMANS; LONGITUDINAL STUDIES; PROPIONIC ACIDEMIA;

EID: 84855351768     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.08.007     Document Type: Note

References (7)

1. Dionisi-Vici C., Deodato F., Roschinger W., Rhead W., Wilcken B. 'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry. J. Inherit. Metab. Dis. 2006, 29:383-389.
2. Sass J.O., Hofmann M., Skladal D., Mayatepek E., Schwahn B., Sperl W. Propionic acidemia revisited: a workshop report. Clin. Pediatr. (Phila) 2004, 43:837-843.
3. Al-odaib A.N., Abu-Amero K.K., Ozand P.T., Al-Hellani A.M. A new era for preventive genetic programs in the Arabian Peninsula. Med. J. 2003, 24:1168-1175.
4. Chapman K.A., Gropman A.L., MacLeod E., Stagni K., Summar M.L., Ueda K., Ah Mew N., Franks J., Island E., Matern D., Pena L., Smith B., Sutton V.R., Urv T., Venditti C., Chakrapani A. Acute management in propionic acidemia. Mol. Genet. Metab. 2011.
5. Pena L., Franks J., Chapman K.A., Gropman A.L., Ah Mew N., Chakrapani A., Island E., MacLeod E., Matern D., Smith B., Stagni K., Sutton V.R., Ueda K., Urv T., Venditti C., Enns G., Summar M.L. Natural history of propionic acidemia. Mol. Genet. Metab. 2011.
6. Sutton V.R., Chapman K.A., Gropman A.L., MacLeod E., Stagni K., Summar M.L., Ueda K., Ah Mew N., Franks J., Island E., Matern D., Pena L., Smith B., Urv T., Venditti C., Chakrapani A. Chronic management and health supervision in individuals with propionic acidemia. Mol. Genet. Metab. 2011.
7. Schreiber J., Chapman K.A., Summar M.L., Ah Mew N., Sutton V.R., MacLeod E., Stagni K., Ueda K., Franks J., Island E., Matern D., Pena L., Smith B., Urv T., Venditti C., Chakrapani A., Gropman A.L. Neurologic considerations in propionic acidemia. Mol. Genet. Metab. 2011.