X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (284) 284
hyperimmunoglobulinemia-d (272) 272
humans (266) 266
familial mediterranean fever (164) 164
periodic fever syndrome (116) 116
male (113) 113
rheumatology (94) 94
female (90) 90
child (89) 89
periodic fever (80) 80
pediatrics (77) 77
mutation (74) 74
encoding mevalonate kinase (72) 72
familial mediterranean fever - genetics (71) 71
mutations (71) 71
hyper-igd (69) 69
syndrome (65) 65
hyper-igd syndrome (64) 64
mevalonate kinase deficiency (61) 61
fever (60) 60
phosphotransferases - genetics (59) 59
immunology (57) 57
mevalonate kinase-deficiency (57) 57
adult (55) 55
child, preschool (55) 55
mevalonate kinase (55) 55
abridged index medicus (52) 52
hyperimmunoglobulinemia-d syndrome (50) 50
familial mediterranean fever - diagnosis (49) 49
inflammation (49) 49
medicine, general & internal (47) 47
muckle-wells-syndrome (47) 47
diagnosis, differential (45) 45
adolescent (41) 41
biochemistry & molecular biology (39) 39
infant (39) 39
immunoglobulin d - blood (38) 38
aciduria (37) 37
amyloidosis (37) 37
anakinra (37) 37
animals (37) 37
aphthous stomatitis (36) 36
autoinflammatory diseases (36) 36
periodic syndrome traps (36) 36
tnf receptor (36) 36
diagnosis (35) 35
mevalonate kinase deficiency - diagnosis (34) 34
mevalonate kinase deficiency - genetics (34) 34
children (33) 33
genetic aspects (30) 30
hyperimmunoglobulinemia d (29) 29
genetics & heredity (28) 28
mevalonic aciduria (28) 28
cholesterol (27) 27
middle aged (27) 27
mevalonate kinase deficiency - drug therapy (26) 26
cytokines (25) 25
mvk (25) 25
phenotype (25) 25
recurrence (25) 25
familial mediterranean fever - drug therapy (24) 24
familial mediterranean fever - immunology (24) 24
hereditary autoinflammatory diseases - diagnosis (24) 24
disease (23) 23
etanercept (23) 23
inflammatory attacks (23) 23
receptors, tumor necrosis factor - genetics (23) 23
research (23) 23
aa amyloidosis (22) 22
autoimmune diseases - genetics (22) 22
clinical-features (22) 22
fever - genetics (22) 22
genotype (22) 22
spectrum (22) 22
arthritis (21) 21
gene (21) 21
hereditary autoinflammatory diseases - genetics (21) 21
hypergammaglobulinemia - genetics (21) 21
hyperimmunoglobulinemia d syndrome (21) 21
internal medicine (21) 21
medicine & public health (21) 21
medicine, research & experimental (21) 21
periodicity (21) 21
cell biology (20) 20
dna mutational analysis (20) 20
immunoglobulin d (20) 20
interleukin-1-beta secretion (20) 20
pyrin (20) 20
activation (19) 19
autoinflammatory syndromes (19) 19
clinical spectrum (19) 19
interleukin-1 (19) 19
mevalonic acid (19) 19
recurrent multifocal osteomyelitis (19) 19
analysis (18) 18
care and treatment (18) 18
dermatology (18) 18
hereditary autoinflammatory diseases - drug therapy (18) 18
hids (18) 18
inflammation - genetics (18) 18
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (333) 333
French (24) 24
German (12) 12
Spanish (9) 9
Turkish (2) 2
Hungarian (1) 1
Italian (1) 1
Japanese (1) 1
Russian (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Pediatric nephrology (Berlin, Germany), ISSN 0931-041X, 05/2019, Volume 34, Issue 9, pp. 1633 - 1634
Journal Article
Journal Article
Blood, ISSN 0006-4971, 11/2008, Volume 112, Issue 9, pp. 3563 - 3573
Mevalonate kinase deficiency (MKD) is an autoinflammatory disorder characterized by recurring fever episodes and results from disturbed isoprenoid... 
CELLS | MEVALONATE KINASE-DEFICIENCY | PHOSPHORYLATION | PATHWAY | PERIODIC FEVER SYNDROME | MURINE MACROPHAGES | HYPERIMMUNOGLOBULINEMIA-D | GENE-EXPRESSION | INTERLEUKIN-1-BETA SECRETION | HEMATOLOGY | PROTEIN ISOPRENYLATION
Journal Article
Journal Article
CLINICAL LABORATORY, ISSN 1433-6510, 2019, Volume 65, Issue 7, pp. 1345 - 1348
Background: Hyper-IgA is not a rare finding in children although its causes are less reported than hypergamma-globulinemia in other classes of immunoglobulin.... 
hyperimmunoglobulinemia D syndrome | inflammation | PERIODIC FEVER SYNDROME | immunoglobulin A | HYPERIMMUNOGLOBULINEMIA-D | fever | MEDICAL LABORATORY TECHNOLOGY | immunoglobulin D
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 05/2018, Volume 378, Issue 20, pp. 1908 - 1919
Journal Article
Pediatrics, ISSN 0031-4005, 07/2011, Volume 128, Issue 1, pp. e152 - e159
Journal Article
MEDICINE, ISSN 0025-7974, 09/2002, Volume 81, Issue 5, pp. 349 - 368
The present report describes and expands the clinical and genetic spectrum of the autoinflammatory disorder, tumor necrosis factor (TNF) receptor-associated... 
ENCODING MEVALONATE KINASE | MEDICINE, GENERAL & INTERNAL | NECROSIS-FACTOR RECEPTOR | FAMILIAL MEDITERRANEAN FEVER | GENE | AMYLOIDOSIS | GENOTYPE | HYPERIMMUNOGLOBULINEMIA-D | PHENOTYPE | MUTATIONS | TNFRSF1A
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2008, Volume 105, Issue 5, pp. 1614 - 1619
Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 2016, Volume 68, Issue 11, pp. 2795 - 2805
ObjectiveMevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe... 
MVK | HYPER-IGD | PERIODIC FEVER SYNDROME | ACIDURIA | HYPERIMMUNOGLOBULINEMIA-D | AUTOINFLAMMATORY DISEASES | MUTATIONS | SPECTRUM | RHEUMATOLOGY | Arthralgia - etiology | Uveitis - etiology | Humans | Child, Preschool | Lymphadenopathy - etiology | Male | Arthralgia - physiopathology | Arthritis - genetics | Stomatitis, Aphthous - genetics | Cerebellar Diseases - physiopathology | Amyloidosis - genetics | Skin Diseases - physiopathology | Amyloidosis - etiology | Child | Stomatitis, Aphthous - etiology | Infant, Newborn | Myalgia - physiopathology | Amyloidosis - physiopathology | Genotype | Headache - physiopathology | Vomiting - genetics | Phenotype | Diarrhea - genetics | Abdominal Pain - genetics | Adolescent | Age of Onset | Intellectual Disability - etiology | Uveitis - genetics | Vomiting - physiopathology | Conjunctivitis - etiology | Conjunctivitis - genetics | Arthritis - physiopathology | Headache - etiology | Skin Diseases - genetics | Mevalonate Kinase Deficiency - physiopathology | Myalgia - genetics | Cerebellar Diseases - etiology | Diarrhea - physiopathology | Infant | Mevalonate Kinase Deficiency - genetics | Intellectual Disability - genetics | Pharyngitis - genetics | Arthritis - etiology | Female | Registries | Retrospective Studies | Arthralgia - genetics | Pharyngitis - physiopathology | Abdominal Pain - etiology | Pharyngitis - etiology | Lymphadenopathy - genetics | Abdominal Pain - physiopathology | Myalgia - etiology | Phosphotransferases (Alcohol Group Acceptor) - genetics | Headache - genetics | Intellectual Disability - physiopathology | Skin Diseases - etiology | Cerebellar Diseases - genetics | Conjunctivitis - physiopathology | Mevalonate Kinase Deficiency - complications | Stomatitis, Aphthous - physiopathology | Vomiting - etiology | Diarrhea - etiology | Lymphadenopathy - physiopathology | Uveitis - physiopathology | Kinases | Genotype & phenotype | Index Medicus | Abridged Index Medicus
Journal Article
Nature Genetics, ISSN 1061-4036, 1999, Volume 22, Issue 2, pp. 178 - 181
Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is a rare, apparently monogenic, autosomal recessive disorder characterized by... 
ATTACKS | FAMILIAL HIBERNIAN FEVER | CLINICAL SPECTRUM | ACIDURIA | GENETICS & HEREDITY | HYPERIMMUNOGLOBULINEMIA-D | 12P13 | IDENTIFICATION | LINKAGE | MVK gene | familial Mediterranean fever | periodic fever syndrome | hyperimmunoglobulinemia D | familial Hibernian fever | HIDS gene
Journal Article
BMC PEDIATRICS, ISSN 1471-2431, 07/2019, Volume 19, Issue 1, pp. 245 - 245
BackgroundThis case follows a 14-month-old female, who despite multiple presentations to several physicians, continued to have recurrent febrile episodes with... 
Periodic fever syndrome | Rash | EFFICACY | HyperIgD syndrome | CANAKINUMAB | DRUGS | HYPERIMMUNOGLOBULINEMIA-D | PEDIATRICS | Inflammation | Mevalonic aciduria | Mevalonate kinase deficiency | Arthralgias | Infection | Permethrin | Anemia | Amoxicillin | Amino acids | Respiratory tract diseases | Health aspects | Drug approval | Genetic screening
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 05/2017, Volume 76, Issue 5, pp. 821 - 830
Journal Article