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  • Centers of expertise for rare diseases in Bulgaria

    Print | Tuesday 16 May 2017 | 1,216 views
    Име Контакт Болести
    Expert Center on Coagulation Disorders and Rare Anemias  Sv. Marina University Hospital. Varna

    Head of the expert center:  Assoc. Prof Valeria Kaleva, MD

    Telephone: 052 978 321

     

    IRF8 deficiency , Orpha 98878

    IRF9 deficiency , Orpha 98879;

    Von Willebrand disease, Orpha 903; 166078

    B- Talasemia major, Orpha 231214

    Talasemia intermedia, Orpha 231222

    Leber congenital amaurosis, Orpha 65; 98869 (type 1), 98873 (type 2), 98870 (type 3)

    Blackfan-Diamond anemia, Orpha 124

    Fanconi anemia, Orpha 84

    G6PD deficiency , Orpha 362

    Hereditary spherocytosis, Orpha 822

    Paroxysmal nocturnal hemoglobinuria, Orpha 447

     

    Expert Center on Genetic Neurological and Metabolic Diseases   

    Aleksandrovska University Hospital, Neurologic Clinic, Sofia

    Head of the expert center:  Prof. Ivaylo Tarvev, MD

    Telephone: 02 9230 670

     

    Emery-Dreifuss muscular dystrophy, Orpha 261

    Limb-girdle muscular dystrophy, Orpha 263

    Niemann-Pick disease, Orpha 646

    Gaucher disease, Orpha 77259; 77260; 77261

    Wilson disease, Orpha 905

    Facioscapulohumeral muscular dystrophy, Orpha 269

    Nonaka distal myopathy, Orpha 602

    Glycogen storage disease due to acid maltase deficiency, Orpha 365

    Duchenne muscular dystrophy, Orpha 98896

    Becker muscular dystrophy, Orpha 98895

    Familial amyloid polyneuropathy, Orpha 85447

    Proximal spinal muscular atrophy type 1, Orpha 83330

    Proximal spinal muscular atrophy type 2, Orpha 83418, 83419

     

    Expert Center on Congenital Heart Malformations in Patients under and above 18 years

     

    National Cardiac Hospital, Sofia

    Head of the expert center:  Prof. Mario Stankev, MD

    Telephone: 02 9211 211

    Pulmonary/Aortic stenosis, МКБ-10 Q20.0

    Aortic coarctation, ICD 10  Q20.1

    –  Opening in ductus Botali , ICD 10  Q20.3

    Tetralogy of Fallot , ICD 10  Q20.4

     

    Expert Center on Pulmonary Arterial Hypertonia

     

    National Cardiac Hospital, Sofia

    Head of the expert center: Prof. Mario Stankev, MD

    Telephone: 02 9211 211

    -&nbspPulmonary arterial hypertonia,  ICD 10  I27.0

     

    Expert Center on Dystonias

     

    Sv. Naum Hospital, Sofia

    Head of the expert center:  Acad. Ivan Milanov, MD

    Telephone: 02 9702 300 

    Focal dystonia, Orpha 1866

    Segment dystonia, Orpha 1866

    Multifocal dystonia, Orpha 1866

     

    Expert Center on Primary Immune Deficiencies

     

    Aleksandrovska University Hospital, Sofia

    Head of the expert center:  Prof. Elisaveta Naumova, MD

    Telephone: 02 9230 690

    E-mail: umbal.alexsandrovska@gmail.com

    immunology@abv.bg

    Primary immune deficiencies
    Expert Center on Fabry disease

     

    Aleksandrovska University Hospital, Sofia

    Head of the expert center:  Prof. Emil Paskalev, MD

    Телефон: 02 9230 539

    E-mail: emilpaskalev@abv.bg

    Fabry disease, Orpha 324
    Expert Center on Hereditary Metabolic Diseases of the Liver

     

    Sv. Ivan Rilski Hospital, Sofia

    Head of the expert center:  Assoc Prof. Aneta Ivanova, MD

    Telephone: 02 8510 814, 02 9522 018

    E-mail: anetaivanova99@abv.bg

    Porphyria variegate , Orpha 79473

    –  Congenital erythropoietic porphyria, Orpha 79277

    Erythropoetic protoporphyria, Orpha 79473

    Hereditary coproporphyria, Orpha 79273

    –   Porphyria cutanea tarda, Orpha 443062

    –   Acute intermittent porphyria , Orpha 79276

    Expert Center on Coagulation Disorders and Congenital Anemias

     

    Hematology Hospital, Sofia

    Head of the expert center:  Prof. Toshko Lisichkov, MD

    Telephone: 02 9701 235

    E-mail: t.lissitchkov@abv.bg

    Hemophilia A

    Hemophilia B

    Von Willebrand disease

    Sideroblastic anemia

    Hemoglobin diseases

    Hemochromatosis

    Talasemia

    Expert Center on Rare Diseases in Pediatrics  SBALDB “Prof. Ivan Mitev”, Sofia

    Head of the expert center:  Prof. Radka Tincheva

    Телефон: 02 8154 240

     
    Expert Center on Huntington Chorea
    МБАЛНП “Св. Наум” ЕАД, София
    MBALNO “ST. Naum”, Sofia

    Ръководители:  Acad. Ivan Milanov,  Prof. Veneta Bozhinova

    Telephone: 02 9702 300 (222)

    E-mail: ubalnp@yahoo.com

    Huntington chorea, Orpha 399
    Expert Center on Rare Endocrine   Diseases

     

    Sv. Matina University Hospital, Varna

    Head of the expert center:  Prof. Violeta Yotova, MD

    Telephone: 052 3028 51, 052 302 889

    E-mail: iotova_v@abv.bg

    Neuroendocrine carcinoma

    Sipple syndrome

    Multiple endocrine neoplasma

    Expert Center on Hypopituitarism, Cushing Syndrome, Acromegalia, Hypophyseal Gigantism

     

    Acad. Ivan Penchev University Hospital, Sofia

    Head of the expert center: Prof. Sabina Zaharieva, MD

    Telephone: 02 895604

    E-mail: zacharieva67@gmail.com

     

    Hypopituitarism, Orpha   90695

    Cushing Syndrome, Orpha   553

    Acromegalia and Hypophyseal gigantism, Orpha   963


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