Contiguous ABCD1 DXS1357E deletion syndrome: Report of an autopsy case

Neuropathology

Volumn 33, Issue 3, 2013, Pages 292-298

  Iwasa, Mitsuaki ^a   Yamagata, Takanori ^a   Mizuguchi, Masashi ^b   Itoh, Masayuki ^c   Matsumoto, Ayumi ^a   Hironaka, Mitsugu ^a   Honda, Ayako ^d   Momoi, Mariko Y ^a   Shimozawa, Nobuyuki ^d  

^a JICHI MEDICAL UNIVERSITY   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^d GIFU UNIVERSITY   (Japan)

Author keywords

Adrenoleukodystrophy protein (ALDP); Contiguous ABCD1 DXS1357E deletion syndrome (CADDS); Neuronal heterotopia; The B cell antigen receptor associated protein 31 (BAP31); Very long chain fatty acids

Indexed keywords

ALANINE AMINOTRANSFERASE; ALKALINE PHOSPHATASE; ASPARTATE AMINOTRANSFERASE; BILE ACID; BILIRUBIN; CHOLAGOGUE; LACTATE DEHYDROGENASE; MEDIUM CHAIN TRIACYLGLYCEROL;

ABNORMAL FECES; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALKALINE PHOSPHATASE BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; AUTOPSY; BILIRUBIN BLOOD LEVEL; BREATHING DISORDER; CASE REPORT; CONTIGUOUS ABCD1 DXS1357E DELETION SYNDROME; FAILURE TO THRIVE; FRACTURE NONUNION; GENETIC DISORDER; HEPATOMEGALY; HUMAN; HUMERUS FRACTURE; HYPOPLASIA; INFANT; INFANT DISEASE; INTRAUTERINE GROWTH RETARDATION; LACTATE DEHYDROGENASE BLOOD LEVEL; MALE; MILK; NEONATAL VENTILATOR; NEWBORN DEATH; NEWBORN INTENSIVE CARE; NEWBORN JAUNDICE; NEWBORN SEPSIS; PATENT DUCTUS ARTERIOSUS; PATHOLOGIC FRACTURE; PATIENT TRANSPORT; PNEUMONIA; PRIORITY JOURNAL; VITAMIN SUPPLEMENTATION;

ATP-BINDING CASSETTE TRANSPORTERS; AUTOPSY; BRAIN; DEVELOPMENTAL DISABILITIES; DNA; DYSTONIA; FATAL OUTCOME; GENE DELETION; HUMANS; INFANT; MALE; MICROARRAY ANALYSIS; NUCLEIC ACID HYBRIDIZATION; PHENOTYPE; POLYMERASE CHAIN REACTION; SYNDROME;

EID: 84878653340     PISSN: 09196544     EISSN: 14401789     Source Type: Journal    
DOI: 10.1111/j.1440-1789.2012.01348.x     Document Type: Article

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