N- acetylneuraminic acid HEXA gene GM3- gangliosidosis HPβCD Gross deletion Infantile form Warren Tay Epileptic spasms Neuronal cells HexB deficiency Chromosome 5q13.3 GLUT1 Blood- brain barrier Founder effect Glycosphingolipid GM2 ganglioside depletion c.533 G > A Miglustat Optic atrophy Catalytic dysfunction Flexible loop Bernard Tay Infantile TSD = high HexA levels Chromosome 15q23 PP6D5 polymer Decerebrate posturing HexA α- subunit HEXB = chromosome 15 Ataxia Lysosomes AAV vectors N- acetylgalactosamine 1 in 300 carriers Cherry- red spot Chromosome 15q13.3 White matter Lysosomal storage metabolic disorder GM3 ganglioside accumulation Juvenile TSD = most severe Dysphasia Hypomyelination Grey matter GM2 activator protein Autosomal- dominant Partial deletions GM2 ganglioside accumulation Hydrolysis Autosomal- recessive Proteolytic processing Hebephrenic schizophrenia GM2- gangliosidosis Neuroglia Missense mutations iPSC cells Warren Sachs Aspiration pneumonia αR424 β- hexosaminidase A Microglia Gastrostomy tube Adult TSD = low HexA levels Homodimeric Substrate reduction therapy Isozymes N- acetylneuraminic acid HEXA gene GM3- gangliosidosis HPβCD Gross deletion Infantile form Warren Tay Epileptic spasms Neuronal cells HexB deficiency Chromosome 5q13.3 GLUT1 Blood- brain barrier Founder effect Glycosphingolipid GM2 ganglioside depletion c.533 G > A Miglustat Optic atrophy Catalytic dysfunction Flexible loop Bernard Tay Infantile TSD = high HexA levels Chromosome 15q23 PP6D5 polymer Decerebrate posturing HexA α- subunit HEXB = chromosome 15 Ataxia Lysosomes AAV vectors N- acetylgalactosamine 1 in 300 carriers Cherry- red spot Chromosome 15q13.3 White matter Lysosomal storage metabolic disorder GM3 ganglioside accumulation Juvenile TSD = most severe Dysphasia Hypomyelination Grey matter GM2 activator protein Autosomal- dominant Partial deletions GM2 ganglioside accumulation Hydrolysis Autosomal- recessive Proteolytic processing Hebephrenic schizophrenia GM2- gangliosidosis Neuroglia Missense mutations iPSC cells Warren Sachs Aspiration pneumonia αR424 β- hexosaminidase A Microglia Gastrostomy tube Adult TSD = low HexA levels Homodimeric Substrate reduction therapy Isozymes
(Print) Use this randomly generated list as your call list when playing the game. There is no need to say the BINGO column name. Place some kind of mark (like an X, a checkmark, a dot, tally mark, etc) on each cell as you announce it, to keep track. You can also cut out each item, place them in a bag and pull words from the bag.
N-acetylneuraminic acid
HEXA gene
GM3-gangliosidosis
HPβCD
Gross deletion
Infantile form
Warren Tay
Epileptic spasms
Neuronal cells
HexB deficiency
Chromosome 5q13.3
GLUT1
Blood-brain barrier
Founder effect
Glycosphingolipid
GM2 ganglioside depletion
c.533 G > A
Miglustat
Optic atrophy
Catalytic dysfunction
Flexible loop
Bernard Tay
Infantile TSD = high HexA levels
Chromosome 15q23
PP6D5 polymer
Decerebrate posturing
HexA α-subunit
HEXB = chromosome 15
Ataxia
Lysosomes
AAV vectors
N-acetylgalactosamine
1 in 300 carriers
Cherry-red spot
Chromosome 15q13.3
White matter
Lysosomal storage metabolic disorder
GM3 ganglioside accumulation
Juvenile TSD = most severe
Dysphasia
Hypomyelination
Grey matter
GM2 activator protein
Autosomal-dominant
Partial deletions
GM2 ganglioside accumulation
Hydrolysis
Autosomal-recessive
Proteolytic processing
Hebephrenic schizophrenia
GM2-gangliosidosis
Neuroglia
Missense mutations
iPSC cells
Warren Sachs
Aspiration pneumonia
αR424
β-hexosaminidase A
Microglia
Gastrostomy tube
Adult TSD = low HexA levels
Homodimeric
Substrate reduction therapy
Isozymes