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Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program, ISSN 1520-4391, 2013, Volume 2013, Issue 1, pp. 605 - 611
Hemophagocytic lymphohistiocytosis (HLH) is not an independent disease but rather a life-threatening clinical syndrome that occurs in many underlying... 
MACROPHAGE ACTIVATION SYNDROME | JUVENILE IDIOPATHIC ARTHRITIS | STXBP2 | LYMPHOMA | MUTATIONS | STEM-CELL TRANSPLANTATION | HEMATOLOGY | RAPID DIAGNOSIS | EDUCATION, SCIENTIFIC DISCIPLINES | T-LYMPHOCYTES | PATHOPHYSIOLOGY | CHILDREN | Lymphohistiocytosis, Hemophagocytic - etiology | Neoplasms - metabolism | Infection - therapy | Humans | Autoimmune Diseases - mortality | Lymphohistiocytosis, Hemophagocytic - mortality | Macrophage Activation Syndrome - metabolism | Autoimmune Diseases - genetics | Neoplasms - complications | Neoplasms - therapy | Common Variable Immunodeficiency - mortality | Albinism - metabolism | Neoplasms - genetics | Albinism - therapy | Macrophage Activation Syndrome - genetics | Lymphohistiocytosis, Hemophagocytic - genetics | Autoimmune Diseases - metabolism | Autoimmune Diseases - pathology | Lymphocytes - metabolism | Albinism - mortality | Autoimmune Diseases - complications | Albinism - complications | Common Variable Immunodeficiency - genetics | Infection - mortality | Macrophage Activation Syndrome - complications | Lymphohistiocytosis, Hemophagocytic - therapy | Common Variable Immunodeficiency - complications | Infection - genetics | Infection - metabolism | Lymphocytes - pathology | Common Variable Immunodeficiency - metabolism | Common Variable Immunodeficiency - therapy | Macrophage Activation Syndrome - pathology | Lymphohistiocytosis, Hemophagocytic - metabolism | Albinism - genetics | Autoimmune Diseases - therapy | Macrophage Activation Syndrome - therapy | Neoplasms - pathology | Infection - complications
Journal Article
Experimental and Therapeutic Medicine, ISSN 1792-0981, 01/2019, Volume 17, Issue 1, pp. 137 - 146
The aim of the study was to identify if there is a connection between the time of administration of alpha-blocker medication and cataract surgery... 
Benign prostatic hyperplasia | Cataract | Tamsulosin | Alpha-blocker | Floppy iris | floppy iris | MEDICINE, RESEARCH & EXPERIMENTAL | cataract | tamsulosin | alpha-blocker | ANTAGONISTS | FLOPPY-IRIS SYNDROME | benign prostatic hyperplasia
Journal Article
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 2018, Volume 176, Issue 7, pp. 1587 - 1593
Journal Article
Clinical and Experimental Dermatology, ISSN 0307-6938, 07/2019, Volume 44, Issue 5, pp. e196 - e199
Journal Article
Clinics in Chest Medicine, ISSN 0272-5231, 09/2016, Volume 37, Issue 3, pp. 505 - 511
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diatheses, granulomatous colitis,... 
Biogenesis of lysosome-related organelle complex | Pulmonary fibrosis | Adaptor protein 3 | Albinism | Hermansky-Pudlak syndrome | Interstitial lung disease | MUTATION SCREEN REVEALS | FORM | SUSCEPTIBILITY | COLITIS | RESPIRATORY SYSTEM | INFLAMMATION | MOUSE MODEL | SYNDROME TYPE-2 | LUNG-DISEASE | PULMONARY-FIBROSIS | IMMUNODEFICIENCY | Epistaxis - etiology | Hemorrhagic Disorders - physiopathology | Pulmonary Veins - abnormalities | Gastrointestinal Diseases - physiopathology | Humans | Gastrointestinal Diseases - etiology | Hypertension, Pulmonary - physiopathology | Telangiectasis - physiopathology | Epistaxis - physiopathology | Arteriovenous Malformations - physiopathology | Intracranial Arteriovenous Malformations - physiopathology | Albinism, Oculocutaneous - physiopathology | Hemorrhagic Disorders - complications | Liver Diseases - etiology | Intracranial Arteriovenous Malformations - etiology | Crohn Disease - etiology | Pulmonary Fibrosis - etiology | Albinism - physiopathology | Blood Coagulation Disorders - etiology | Arteriovenous Malformations - etiology | Pulmonary Artery - abnormalities | Albinism - complications | Albinism, Oculocutaneous - etiology | Telangiectasis - etiology | Hermanski-Pudlak Syndrome - complications | Pulmonary Fibrosis - physiopathology | Hermanski-Pudlak Syndrome - physiopathology | Crohn Disease - physiopathology | Liver Diseases - physiopathology | Hypertension, Pulmonary - etiology | Blood Coagulation Disorders - physiopathology
Journal Article
Journal of Clinical Imaging Science, ISSN 2156-7514, 01/2014, Volume 4, Issue 1, p. 59
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous hypopigmentation, platelet dysfunction, and in many... 
platelet dysfunction | oculocutaneous hypopigmentation | Hermansky-Pudlak syndrome | pulmonary fibrosis | Respiratory tract diseases | Prognosis | Pulmonary fibrosis | Inflammatory bowel disease | Lungs | Albinism | Blood platelets | Cysts | Lung diseases | Cystic fibrosis | Hypoxia | Mutation | Patients | Blood
Journal Article
Molecular Vision, ISSN 1090-0535, 2011, Volume 17, Issue 104, pp. 939 - 948
Background: A broad spectrum of pigmentation of the skin and hair is found among patients diagnosed with ocular albinism (OA) and oculocutaneous albinism... 
TYROSINASE GENE | EYED-DILUTION LOCUS | RECESSIVE OCULAR ALBINISM | OCULOCUTANEOUS ALBINISM | OA1 GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY | OPHTHALMOLOGY | MELANOCORTIN-1 RECEPTOR | CHINESE FAMILY | HUMAN PIGMENTATION | P-GENE | RED HAIR | Eye - pathology | Hypopigmentation - congenital | Genetic Testing | Hypopigmentation - metabolism | Membrane Glycoproteins - metabolism | Humans | Nystagmus, Congenital - complications | Child, Preschool | Infant | Male | Nystagmus, Congenital - genetics | Receptor, Melanocortin, Type 1 - metabolism | Monophenol Monooxygenase - metabolism | Polymorphism, Single-Stranded Conformational | Genes, X-Linked | Membrane Transport Proteins - genetics | Nystagmus, Congenital - metabolism | Albinism, Oculocutaneous - genetics | Base Sequence | Adult | Female | Membrane Transport Proteins - metabolism | Monophenol Monooxygenase - genetics | Eye Proteins - genetics | Child | Hypopigmentation - complications | Albinism, Ocular - genetics | Eye - metabolism | Hypopigmentation - genetics | Albinism, Oculocutaneous - metabolism | Genetic Association Studies | Receptor, Melanocortin, Type 1 - genetics | Visual Acuity - genetics | Albinism, Ocular - complications | Membrane Glycoproteins - genetics | Albinism, Oculocutaneous - complications | Phenotype | Eye Proteins - metabolism | Pedigree | Adolescent | Alleles | Albinism, Ocular - metabolism | Mutation | Fundus Oculi
Journal Article
Journal Article
Clinical and Experimental Dermatology, ISSN 0307-6938, 01/2017, Volume 42, Issue 1, pp. 84 - 88
Journal Article
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