Newborn screening for spinal muscular atrophy: Anticipating an imminent need

Seminars in Perinatology

Volumn 39, Issue 3, 2015, Pages 217-229

  Phan, Han C ^a   Taylor, Jennifer L ^b   Hannon, Harry ^c   Howell, Rodney ^d  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Clinical and Laboratory Standards Institute ^*  (United States)

^c Clinical and Laboratory Standards Institute   (United States)

^d UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

Newborn screening; Spinal muscular atrophy

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; CEFTRIAXONE; HISTONE DEACETYLASE INHIBITOR; NUSINERSEN; OLESOXIME; PLACEBO; QUINAZOLINE; RILUZOLE; RO 6885247; SMALL MOLECULE TRANSPORT AGENT; SURVIVAL MOTOR NEURON PROTEIN; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; UNCLASSIFIED DRUG;

ARTICLE; ASPIRATION PNEUMONIA; AUTOPSY; CAUSE OF DEATH; CONSTIPATION; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DIETARY INTAKE; DRIED BLOOD SPOT TESTING; DRUG EFFICACY; EARLY DIAGNOSIS; GASTROESOPHAGEAL REFLUX; GENE DELETION; GENE DOSAGE; HIGH RESOLUTION MELTING ANALYSIS; HOMOZYGOSITY; HUMAN; HYPOVENTILATION; INFANT MORTALITY; LIFE EXPECTANCY; LIFESPAN; LUMBAR PUNCTURE; MOLECULAR GENETICS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE STRENGTH; NEURAL STEM CELL TRANSPLANTATION; NEWBORN SCREENING; NONHUMAN; ONSET AGE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; QUALITY OF LIFE; REAL TIME POLYMERASE CHAIN REACTION; REHABILITATION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCOLIOSIS; SEVERE COMBINED IMMUNODEFICIENCY; SINGLE STRAND CONFORMATION POLYMORPHISM; SPINAL MUSCULAR ATROPHY; STEM CELL TRANSPLANTATION; STOMACH EMPTYING; STOP CODON; SURVIVAL RATE; UNSPECIFIED SIDE EFFECT; WERDNIG HOFFMANN DISEASE; BLOOD; GENETIC SCREENING; GENETICS; HEALTH SERVICE; HETEROZYGOTE DETECTION; MOLECULARLY TARGETED THERAPY; MUSCULAR ATROPHY, SPINAL; NEWBORN; ORGANIZATION AND MANAGEMENT; PROCEDURES; PROGNOSIS; TRENDS;

DRIED BLOOD SPOT TESTING; GENETIC TESTING; HEALTH SERVICES NEEDS AND DEMAND; HETEROZYGOTE DETECTION; HUMANS; INFANT, NEWBORN; MOLECULAR TARGETED THERAPY; MUSCULAR ATROPHY, SPINAL; NEONATAL SCREENING; PROGNOSIS; SURVIVAL OF MOTOR NEURON 1 PROTEIN;

EID: 84929671164     PISSN: 01460005     EISSN: 1558075X     Source Type: Journal    
DOI: 10.1053/j.semperi.2015.03.006     Document Type: Review

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