Neonatal spinal muscular atrophy type 1 with bone fractures and heart defect

Journal of Child Neurology

Volumn 22, Issue 1, 2007, Pages 67-70

  Vaidla, Eve ^a   Talvik, Inga ^b   Kulla, Andres ^c   Sibul, Hiljar ^c   Maasalu, Katre ^c   Metsvaht, Tuuli ^c   Piirsoo, Andres ^a   Talvik, Tiina ^a,b  

^a UNIVERSITY OF TARTU   (Estonia)

^b TARTU UNIVERSITY HOSPITAL   (Estonia)

^c TARTU UNIVERSITY CLINICS   (Estonia)

Author keywords

Bone fractures; Degeneration of red nucleus; Heart defect; SMN1; Spinal muscular atrophy

Indexed keywords

DNA; SURVIVAL MOTOR NEURON PROTEIN;

ARTICLE; ARTIFICIAL VENTILATION; AUTOPSY; BONE RADIOGRAPHY; CASE REPORT; CESAREAN SECTION; CHROMOSOME 5Q; CLINICAL EXAMINATION; COMPUTER ASSISTED TOMOGRAPHY; CORTICAL BONE; DEATH; DISEASE SEVERITY; DNA DETERMINATION; ECHOCARDIOGRAPHY; ELECTROMYOGRAPHY; ELECTRONEUROGRAPHY; FEMALE; FEMUR FRACTURE; GENE MUTATION; GENETIC ANALYSIS; HEART ATRIUM SEPTUM DEFECT; HEART DISEASE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; HUMERUS FRACTURE; INFANT; MESENCEPHALON; MOTOR PERFORMANCE; MUSCLE CELL; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NERVE CELL DEGENERATION; NEWBORN INTENSIVE CARE; OSTEOPENIA; PATHOGENESIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RED NUCLEUS; RESPIRATORY FAILURE; SPINAL CORD VENTRAL HORN; SPINAL MUSCULAR ATROPHY; STIMULUS RESPONSE; SYSTOLIC HEART MURMUR;

FEMALE; FRACTURES, BONE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD;

EID: 34249861862     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073807299954     Document Type: Article

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