Kendra J. Bjoraker is known nationally and internationally for her clinical and research work in neurocognitive and neurobehavioral outcomes in children with various neurological conditions.

EXPERTISE

RARE GENETIC DISEASES


Lysosomal diseases

Alpha-Mannosidosis

Aspartylglucosaminuria

Batten disease (Neuronal Ceroid Lipofuscinoses)

Beta-Mannosidosis

Cholesteryl Ester storage disease

Cystinosis

Danon disease

Fabry disease

Barber disease

Fucosidosis

Galactosialidosis

Gaucher disease

Gangliosidosis

Krabbe disease

Metachromatic leukodystrophy

Lysosomal diseases (Cont)

Mucopolysaccharidoses disorders

  • MPS I – Hurler syndrome
  • MPS II – Hunter syndrome
  • MPS III – Sanfilippo (A, B, C, D)
  • MPS IV – Morquio syndrome (A & B)
  • MPS VI – Maroteaux-Lamy syndrome
  • MPS VII – Sly syndromeMucolipidosis Type I (Sialidosis)

Mucolipidosis Type II (I-Cell disease)

Mucolipidosis Type III (Pseudo-Hurler polydystrophy)

Mucolipidosis Type IV

Multiple Sulfatase Deficiency

Niemann-Pick Types A & B

Pompe disease (Glycogen Storage disease)

Sandhoff disease

Schindler disease

Tay-Sachs disease

Wolman disease

Peroxisomal diseases

Adrenokeukodystrophy (ALD)

Phenylketonuria (PKU)

Neurodevelopmental disorders

Neuromuscular disorders

Duchenne muscular dystrophy (DMD)

Becker muscular dystrophy (BMD)

Spinal muscular atrophy (SMA)

Limb-girdle muscular dystrophy

Pompe disease

Charcot-Marie-Tooth disease (CMT)/Hereditary Motor Sensory Neuropathy

Congenital muscular dystrophy

Facioscapulohumeral dystrophy

Friedreich’s Ataxia

Myotonic dystrophy

Nonketotic Hyperglycinemia (NKH)

Urea Cycle Disorders