Pyrroline-5-Carboxylate Reductase 2 Deficiency: A New Case and Review of the Literature.

Authors :: Afroze B
Mercimek-Andrews S
Source :: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques [Can J Neurol Sci] 2020 Mar; Vol. 47 (2), pp. 280-282.
Publication Year :: 2020

Subjects :: Brain Diseases
Child, Preschool
Consanguinity
Electroencephalography
Female
Hereditary Central Nervous System Demyelinating Diseases diagnostic imaging
Hereditary Central Nervous System Demyelinating Diseases genetics
Humans
Magnetic Resonance Imaging
Microcephaly physiopathology
Pyrroline Carboxylate Reductases genetics
Brain diagnostic imaging
Developmental Disabilities physiopathology
Failure to Thrive physiopathology
Hereditary Central Nervous System Demyelinating Diseases physiopathology
Muscle Hypotonia physiopathology
Pyrroline Carboxylate Reductases deficiency
Seizures physiopathology

Language :: English
ISSN :: 0317-1671
Volume :: 47
Issue :: 2
Database :: MEDLINE
Journal :: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
Publication Type :: Review
Accession number :: 31918782
Full Text :: https://doi.org/10.1017/cjn.2020.5

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