Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
Bruno
C
C
Neuromuscular Disease Unit, Department of Pediatrics, University of Genova, Istituto Giannina Gaslini, Largo G. Gaslini 5, I-16147 Genova, Italy. claudiobruno@ospedale-gaslini.ge.it
van Diggelen
O P
OP
Cassandrini
D
D
Gimpelev
M
M
Giuffrè
B
B
Donati
M A
MA
Introvini
P
P
Alegria
A
A
Assereto
S
S
Morandi
L
L
Mora
M
M
Tonoli
E
E
Mascelli
S
S
Traverso
M
M
Pasquini
E
E
Bado
M
M
Vilarinho
L
L
van Noort
G
G
Mosca
F
F
DiMauro
S
S
Zara
F
F
Minetti
C
C
D015061:1,4-alpha-Glucan Branching Enzyme / Q000737:chemistry / Q000172:deficiency / Q000235:genetics*; D000328:Adult; D017668:Age of Onset; D019943:Amino Acid Substitution; D002478:Cells, Cultured / Q000201:enzymology; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D004912:Erythrocytes / Q000201:enzymology; D017809:Fatal Outcome; D005347:Fibroblasts / Q000201:enzymology; D018740:Genetic Heterogeneity; D005838:Genotype; D006011:Glycogen Storage Disease Type IV / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D006801:Humans; D006860:Hydrogen Bonding; D057927:Hydrophobic and Hydrophilic Interactions; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000473:pathology; D008958:Models, Molecular; D009132:Muscles / Q000201:enzymology / Q000473:pathology; D009154:Mutation; D010641:Phenotype; D011487:Protein Conformation; D022821:RNA Splice Sites / Q000235:genetics; D017384:Sequence Deletion
D022821:RNA Splice Sites; D004247:DNA; D015061:1,4-alpha-Glucan Branching Enzyme