Krabbe disease: Clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards

Molecular Genetics and Metabolism

Volumn 105, Issue 1, 2012, Pages 126-131

  Puckett, R L ^a   Orsini, J J ^b   Pastores, G M ^c   Wang, R Y ^a   Chang, R ^a   Saavedra Matiz, C A ^b   Torres, P A ^c   Zeng, B ^c   Caggana, M ^b   Lorey, F ^d   Abdenur, J E ^a  

^a CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^b NEW YORK STATE DEPARTMENT OF HEALTH   (United States)

^c NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d CALIFORNIA DEPARTMENT OF PUBLIC HEALTH   (United States)

Author keywords

Bone marrow transplant; Galactocerebrosidase; HSCT; Krabbe disease; Lysosomal storage diseases; Newborn screening

Indexed keywords

ANTIBIOTIC AGENT; BACLOFEN; GALACTOSYLCERAMIDASE; PHENOBARBITAL;

ADOLESCENT; ANTIBIOTIC THERAPY; ARTICLE; ARTIFICIAL VENTILATION; BASAL GANGLION; BIOCHEMISTRY; BIRTH WEIGHT; BODY HEIGHT; BRAIN ATROPHY; BREAST FEEDING; CEREBELLUM; CEREBELLUM ATROPHY; CEREBELLUM VERMIS; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORPUS CALLOSUM; CRYING; DEVELOPMENTAL DISORDER; DISEASE COURSE; DYSPHAGIA; ELECTROENCEPHALOGRAM; EMERGENCY WARD; ENZYME ACTIVITY; ENZYME ANALYSIS; EYE TRACKING; FEEDING DISORDER; FEMALE; FEVER; FLEXION CONTRACTURE; GASTROSTOMY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; GLOBOID CELL LEUKODYSTROPHY; HEMISPHERE; HOSPICE CARE; HUMAN; HYDROCEPHALUS; HYPOXIA; INFANT; IRRITABILITY; LEUKOCYTE; LEUKODYSTROPHY; MACROCEPHALY; MALE; MEDICAL RECORD REVIEW; MOLECULAR BIOLOGY; MUSCLE HYPERTONIA; MUSCLE TONE; MYOCLONUS SEIZURE; NEUROLOGIC EXAMINATION; NEWBORN SCREENING; NOSE FEEDING; NUCHAL CORD; NUTRITIONAL SUPPORT; OCCUPATIONAL THERAPY; PHYSICAL EXAMINATION; PHYSIOTHERAPY; PNEUMONIA; PONS; PREMATURITY; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY DISTRESS; RESPIRATORY SYNCYTIAL VIRUS INFECTION; RETROSPECTIVE STUDY; SCHOOL CHILD; SEIZURE; SENSITIVITY ANALYSIS; STOMACH PARESIS; TENDON REFLEX; THALAMUS; TONIC CLONIC SEIZURE; UNSTEADINESS; VOMITING; WHITE MATTER;

ADOLESCENT; BRAIN; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DRIED BLOOD SPOT TESTING; FATAL OUTCOME; FEMALE; GALACTOSYLCERAMIDASE; HUMANS; INFANT; INFANT, NEWBORN; LEUKODYSTROPHY, GLOBOID CELL; MAGNETIC RESONANCE IMAGING; MALE; NEONATAL SCREENING; RETROSPECTIVE STUDIES;

EID: 84855346665     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.10.010     Document Type: Article

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