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Journal of pediatric hematology/oncology, ISSN 1077-4114, 08/2019, Volume 41, Issue 7, pp. e416 - e420
Gaucher disease (GD) is the most common lysosomal storage disorder, the aim of the current study was to investigate hyperimmunoglobulinemia and abnormalities... 
Journal Article
International Journal of Rheumatology, ISSN 1687-9260, 2016, Volume 2016, pp. 7354018 - 6
. SAA is an acute-phase reactant detected during an FMF attack or other inflammatory conditions. High SAA levels may increase the risk of amyloidosis. The aim... 
Measurement | Complications and side effects | Care and treatment | Amyloid beta-protein | Genetic aspects | Dosage and administration | Familial Mediterranean fever | Research | Colchicine | Diagnosis | Pediatrics | Compliance | Laboratories | Rheumatology | Families & family life | Arthritis | Inflammation | Family medical history | Blood | Fever | Mutation | Kidney diseases | Drug dosages | Age | Clinical Study
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2015, Volume 114, Issue 2, pp. S21 - S21
Journal Article
Human Mutation, ISSN 1059-7794, 08/2014, Volume 35, Issue 8, pp. 949 - 953
Journal Article
Australian Journal of Basic and Applied Sciences, ISSN 1991-8178, 07/2011, Volume 5, Issue 7, pp. 387 - 396
Journal Article
Zeitschrift für Naturforschung C, ISSN 0939-5075, 04/2012, Volume 67, Issue 3, pp. 151 - 162
From an extract of leaves and small branches of Euphorbia cotinifolia L., 17 polyphenols were isolated including two new ellagitannins and a... 
Euphorbia cotinifolia | Antitumour and Antioxidant Activity | Ellagitannins
Journal Article
Journal of Hepatology, ISSN 0168-8278, 2005, Volume 43, Issue 3, pp. 418 - 424
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 01/2011, Volume 88, Issue 1, p. 92
Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and anophthalmia-syndactyly, is a rare... 
Proteins | Genomics | Mutation | Gene expression | Developmental disabilities | Binding sites
Journal Article
Journal Article
Journal of Inborn Errors of Metabolism and Screening, ISSN 2326-4098, 4/2018, Volume 6, p. 232640981876556
Gaucher disease (GD) is an autosomal recessive lipid storage disorder, caused by deficient activity of the lysosomal enzyme β-glucocerebrosidase, resulting in... 
Journal Article
Open access Macedonian journal of medical sciences, ISSN 1857-9655, 02/2018, Volume 6, Issue 2, pp. 423 - 429
Acute encephalitis syndrome (AES) is a considerable public health problem. This study was designed to describe the aetiology, demographic features, clinical... 
Pediatric | Outcome | PCR | Viral encephalitis
Journal Article
The Egyptian journal of immunology / Egyptian Association of Immunologists, ISSN 1110-4902, 2005, Volume 12, Issue 1, pp. 15 - 24
Thalassaemia is a group of inherited haemoglobin disorders characterized by reduced synthesis of one or more of the globin chains leading to imbalanced a... 
Globins - genetics | Humans | Adolescent | Egypt | beta-Thalassemia - genetics | beta-Thalassemia - physiopathology | Child, Preschool | Adult | Female | Infant | Male | Child
Journal Article
International Journal of Dermatology, ISSN 0011-9059, 08/2005, Volume 44, Issue 8, pp. 674 - 676
A case of branchio-oculo-facial syndrome with bilateral linear scars affecting both sides of the neck is described. The disease occured in a male patient aged... 
DERMAL THYMUS | SPECTRUM | DERMATOLOGY | Branchio-Oto-Renal Syndrome - complications | Humans | Adult | Branchio-Oto-Renal Syndrome - pathology | Male | Cicatrix - pathology | Neck | Cicatrix - complications
Journal Article
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