Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA

Molecular Genetics and Metabolism

Volumn 110, Issue 1-2, 2013, Pages 54-64

  Hendriksz, C J ^a   Harmatz, P ^b   Beck, M ^c   Jones, S ^a   Wood, T ^d   Lachman, R ^e   Gravance, C G ^f   Orii, T ^g   Tomatsu, S ^h  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b CHILDREN S HOSPITAL OAKLAND   (United States)

^c UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^d GREENWOOD GENETIC CENTER   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f BIOMARIN PHARMACEUTICAL INC   (United States)

^g GIFU UNIVERSITY   (Japan)

^h NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

Author keywords

GALNS; Laboratory diagnosis; Morquio A; MPS IVA; Mucopolysaccharidosis IVA

Indexed keywords

ACID GLYCOSAMINOGLYCAN; BETA GALACTOSIDASE; BETA N ACETYLHEXOSAMINIDASE; CHONDROITIN 6 SULFATE; CYSTEINE; KERATAN SULFATE; LEVO IDURONIDASE; MANNOSE 6 PHOSPHATE; GALNS PROTEIN, HUMAN; GLYCOSAMINOGLYCAN; N ACETYLGALACTOSAMINE 4 SULFATASE;

ACHONDROPLASIA; ADENOIDECTOMY; AIRWAY OBSTRUCTION; ANESTHESIST; AORTA VALVE REGURGITATION; ATLANTOAXIAL SUBLUXATION; BIRTH WEIGHT; BODY HEIGHT; BODY WEIGHT; BONE DYSPLASIA; CERVICAL MYELOPATHY; CERVICAL SPINAL CORD; CESAREAN SECTION; CHROMOSOME ARM; CLINICAL EXAMINATION; CLINICAL LABORATORY; CLINICAL OBSERVATION; CONSANGUINEOUS MARRIAGE; CORE TEMPERATURE; DELAYED DIAGNOSIS; DENTAL CARIES; DIFFERENTIAL DIAGNOSIS; DISEASE ACTIVITY; DISEASE SEVERITY; DRIED BLOOD SPOT TESTING; DYSPLASIA; DYSPNEA; EARLY DIAGNOSIS; ELECTROPHORESIS; ENAMEL; ENZYME ACTIVITY; EVOKED SOMATOSENSORY RESPONSE; EXON; EXTRACELLULAR SPACE; FAMILY HISTORY; FECES INCONTINENCE; FOLLOW UP; FORCED EXPIRATORY VOLUME; FORCED VITAL CAPACITY; FUNCTIONAL DISEASE; GAIT DISORDER; GENE SEQUENCE; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENOTYPE; GLOBOID CELL LEUKODYSTROPHY; GLYCOSAMINOGLYCAN METABOLISM; GROWTH CURVE; GROWTH RATE; GROWTH RETARDATION; HEARING IMPAIRMENT; HEART VALVE REPLACEMENT; HEMODIALYSIS; HEPATOMEGALY; HIP ARTHROPLASTY; HIP SURGERY; HUMAN; HURLER SYNDROME; INTRON; JOINT FUNCTION; JOINT INSTABILITY; JOINT LAXITY; KUPFFER CELL; KYPHOSCOLIOSIS; KYPHOSIS; LABORATORY DIAGNOSIS; LIFE EXPECTANCY; LOWER EXTREMITY DEEP VEIN THROMBOSIS; LUMBAR VERTEBRA; LUNG FUNCTION TEST; LUNG VOLUME; MEMBRANOUS GLOMERULONEPHRITIS; MISSENSE MUTATION; MITRAL VALVE REGURGITATION; MIXED HEARING LOSS; MORQUIO SYNDROME; MUCOLIPIDOSIS TYPE 2; MULTIGENE FAMILY; NEUROLOGIC EXAMINATION; NEWBORN SCREENING; NIGHT SLEEP; NUCLEAR MAGNETIC RESONANCE IMAGING; OBESITY; ODONTOID DYSPLASIA; ODONTOID PROCESS; ONSET AGE; PENETRATING KERATOPLASTY; PHENOTYPE; PHYSICAL ACTIVITY; PHYSICAL DISABILITY; PIGEON THORAX; PILOT STUDY; POLYSOMNOGRAPHY; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; PULMONARY HYPERTENSION; QUALITY OF LIFE; RECURRENT INFECTION; REVIEW; SAMPLE SIZE; SHORT STATURE; SLEEP DISORDERED BREATHING; SOUTH AND CENTRAL AMERICA; TANDEM MASS SPECTROMETRY; THERAPY EFFECT; THIN LAYER CHROMATOGRAPHY; TONSILLECTOMY; TYMPANOSTOMY TUBE; URINALYSIS; URINE INCONTINENCE; VALGUS KNEE; VERTEBRA BODY; WHEELCHAIR; ENZYMOLOGY; FIBROBLAST; GENETICS; METABOLISM; MUCOPOLYSACCHARIDOSIS IV; MUTATION; PATHOLOGY;

IVA;

CHONDROITINSULFATASES; FIBROBLASTS; GLYCOSAMINOGLYCANS; HUMANS; MUCOPOLYSACCHARIDOSIS IV; MUTATION; PHENOTYPE;

EID: 84882894523     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.04.002     Document Type: Review

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