PMM2-CDG and sensorineural hearing loss

Journal of Inherited Metabolic Disease

Volumn 40, Issue 5, 2017, Pages 629-630

  Kasapkara, Çiğdem Seher ^a   Barış, Zeren ^b   Kılıç, Mustafa ^a   Yüksel, Deniz ^a   Keldermans, Lies ^c   Matthijs, Gert ^c   Jaeken, Jaak ^c  

^a Dr Sami Ulus Maternity and Children Training and Research Hospital   (Turkey)

^b BASKENT UNIVERSITY   (Turkey)

^c UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHOMANNOMUTASE; PHOSPHOMANNOMUTASE 2; UNCLASSIFIED DRUG; MUTASE; PHOSPHOMANNOMUTASE 2, HUMAN;

AUDIOMETRY; CASE REPORT; CEREBELLUM ATROPHY; CHILD; CLINICAL ARTICLE; DISEASE ASSOCIATION; ECHOCARDIOGRAPHY; ECHOGRAPHY; ENZYME DEFICIENCY; EVOKED BRAIN STEM AUDITORY RESPONSE; EVOKED BRAIN STEM RESPONSE; HEAD CIRCUMFERENCE; HEPATOMEGALY; HUMAN; HYPERTELORISM; HYPOREFLEXIA; ISOELECTRIC FOCUSING; LETTER; MALE; MICROGNATHIA; MUSCLE HYPOTONIA; NEWBORN PERIOD; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; PHILTRUM; PHOSPHOMANNOMUTASE 2 DEFICIENCY; POSTERIOR FOSSA; PRESCHOOL CHILD; PSYCHOMOTOR DISORDER; ANTHROPOMETRY; AUDITORY EVOKED POTENTIAL; BRAIN STEM; COMPLICATION; CONGENITAL DISORDER OF GLYCOSYLATION; DEFICIENCY; GENETICS;

ANTHROPOMETRY; AUDIOMETRY; BRAIN STEM; CHILD, PRESCHOOL; CONGENITAL DISORDERS OF GLYCOSYLATION; EVOKED POTENTIALS, AUDITORY; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; PHOSPHOTRANSFERASES (PHOSPHOMUTASES);

EID: 85026505253     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-017-0073-z     Document Type: Letter

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