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osteopetrosis (76) 76
albers-schonberg-disease (71) 71
humans (65) 65
osteopetrosis - genetics (41) 41
autosomal-dominant osteopetrosis (39) 39
index medicus (37) 37
male (33) 33
female (31) 31
endocrinology & metabolism (29) 29
albers-schonberg disease (26) 26
mutation (22) 22
osteopetrosis - complications (21) 21
adult (20) 20
animals (20) 20
mutations (20) 20
orthopedics (20) 20
osteopetrosis - pathology (18) 18
middle aged (17) 17
chloride channels - genetics (16) 16
osteoclast (16) 16
mice (15) 15
radiography (15) 15
bones (14) 14
recessive osteopetrosis (14) 14
albers-schönberg disease (13) 13
bone resorption (12) 12
osteoclasts (12) 12
osteopetrosis - diagnostic imaging (12) 12
adolescent (11) 11
bone (11) 11
bone diseases (11) 11
density (11) 11
diagnosis (11) 11
gene (11) 11
genes, dominant (11) 11
osteopetrosis - physiopathology (11) 11
osteoporosis (11) 11
phenotype (11) 11
anhydrase-ii deficiency (10) 10
fractures (10) 10
osteoclasts - pathology (10) 10
osteomyelitis (10) 10
renal tubular-acidosis (10) 10
autosomal recessive osteopetrosis (9) 9
child (9) 9
clcn7 gene-mutations (9) 9
osteoclasts - metabolism (9) 9
osteosclerosis (9) 9
subunit (9) 9
surgery (9) 9
aged (8) 8
bone-resorption (8) 8
child, preschool (8) 8
family (8) 8
genetic aspects (8) 8
genetics (8) 8
genetics & heredity (8) 8
medicine, research & experimental (8) 8
osteopetrosis - diagnosis (8) 8
pathology (8) 8
pedigree (8) 8
analysis (7) 7
bone density (7) 7
bone resorption - physiopathology (7) 7
dominant osteopetrosis (7) 7
infant (7) 7
medicine & public health (7) 7
osteopetrosis - therapy (7) 7
bone resorption - genetics (6) 6
cell biology (6) 6
congenital osteopetrosis (6) 6
disease models, animal (6) 6
dysplasia (6) 6
infantile malignant osteopetrosis (6) 6
malignant osteopetrosis (6) 6
marble bone disease (6) 6
mutation - genetics (6) 6
of-the-literature (6) 6
osteopetrosis - metabolism (6) 6
resistant acid-phosphatase (6) 6
rheumatology (6) 6
young adult (6) 6
bone-marrow transplantation (5) 5
camurati-engelmann-disease (5) 5
care and treatment (5) 5
chloride channel (5) 5
emergency medicine (5) 5
endocrinology (5) 5
life sciences (5) 5
lrp5 gene (5) 5
management (5) 5
osteoclasts - physiology (5) 5
receptor-related protein-5 (5) 5
stem-cell transplantation (5) 5
vacuolar proton pump (5) 5
abridged index medicus (4) 4
acidification (4) 4
autosomal dominant osteopetrosis (4) 4
autosomal dominant osteopetrosis type ii (4) 4
biochemistry & molecular biology (4) 4
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International Orthopaedics, ISSN 0341-2695, 6/2019, Volume 43, Issue 6, pp. 1297 - 1302
Osteopetrosis is a hereditary skeletal disorder in which defective osteoclast function leads to abnormally hard and brittle bones. This study aims to describe... 
Fractures | Osteopetrosis | Medicine & Public Health | Patients | Orthopedics | Single institution | MANAGEMENT | ORTHOPEDICS | ALBERS-SCHONBERG DISEASE
Journal Article
New England Journal of Medicine, ISSN 0028-4793, 12/2004, Volume 351, Issue 27, pp. 2839 - 2849
Journal Article
ENDOCRINE PRACTICE, ISSN 1530-891X, 08/2015, Volume 21, Issue 8, pp. 975 - 975
Journal Article
BONE, ISSN 8756-3282, 12/2017, Volume 105, pp. 253 - 261
Dominant negative mutations in CLCN7, which encodes a homodimeric chloride channel needed for matrix acidification by osteoclasts, cause Albers-Schonberg... 
PHENOTYPE | AUTOSOMAL-DOMINANT OSTEOPETROSIS | ADO2 MICE | Osteopetrosis | GENE | ENDOCRINOLOGY & METABOLISM | IMPROVES | OSTEOGENESIS IMPERFECTA | GENERATION | BONE | MUTATIONS | osteoclast | Albers-Schonberg disease | interferon-gamma
Journal Article
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, ISSN 1422-0067, 09/2019, Volume 20, Issue 18, p. 4502
Bone is a peculiar tissue subjected to a continuous process of self-renewal essential to assure the integrity of the skeleton and to explicate the endocrine... 
GLA-PROTEIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | AUTOSOMAL RECESSIVE OSTEOPETROSIS | bone diseases | SERUM | CHEMISTRY, MULTIDISCIPLINARY | GAMMA-CARBOXYGLUTAMIC ACID | ALBERS-SCHONBERG-DISEASE | WOMEN | MINERAL DENSITY | osteocalcin | DOMINANT OSTEOPETROSIS | osteoclast | ASSOCIATION | CONTAINING PROTEIN
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 09/2017, Volume 102, Issue 9, pp. 3111 - 3123
Journal Article