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7,553 Possible Causes for Autophagic Vacuoles Seen on Biopsy, Italian

  • Inclusion Body Myopathy

    Tubulo-filamentous inclusions were seen in close to autophagic vacuoles and in a few myonuclei.[] Our study demonstrates that VCP mutations are found in patients of Italian background and may lead to a variable clinical phenotype even within the same kinship.[] Abstract We report an Italian family with autosomal recessive quadriceps-sparing inclusion-body myopathy (ARQS-IBM).[]

  • Adrenogenital Syndrome

    […] Dictionary English-Italian A adrenogenital syndrome "adrenogenital syndrome" translation into Italian EN volume_up adrenogenital syndrome {noun} IT sindrome adrenogenitale[] […] incidence is approximately 1 15,000 ). [6] Continued treatment and wellness is enhanced by education and follow up. [19] History [ edit ] Before 20th century [ edit ] An Italian[] It appears to happen more often in people of Ashkenazi Jewish, Hispanic, Slavic and Italian background. Does CAH go by any other names?[]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Familial Mediterranean Fever

    Mediterranean fever is an inherited disorder that usually occurs in people of Mediterranean origin — including those of North African, Jewish, Arab, Armenian, Turkish, Greek or Italian[] It has been described in several ethnic groups including Sephardic Jews, Armenians, Turks, North Africans, Arabs, Greeks, and Italians.[] Mediterranean fever (FMF) is a disease of people with genetic origins in the Mediterranean basin, predominantly Sephardic Jews, North African Arabs, Armenians, Turks, Greeks, and Italians[]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Glycogen Storage Disease Type 1

    PATIENTS AND METHODS: Ninety-five patients (median age at the time of the study: 14.5 years) were enrolled from nine Italian referral centres for metabolic diseases.[] Sechi A, Deroma L, Paci S, et al ; Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study. JIMD Rep. 2013 Dec 21.[]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Fucosidosis

    This mutation was present in one allele and was found also in the mother who was of Italian origin. (2) A C to A mutation (W382X) in exon 6 in an Italian patient.[] This G60D mutation creates a unique site for AflIII. 4) A frameshift mutation resulted from a two-base deletion in exon 2 (K151fs) in an Italian patient.[] Abstract A significant proportion of patients affected with fucosidosis have Italian ancestors.[]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Benign Adult Familial Myoclonic Epilepsy

    Five Italian BAFME families were identified. One family has not been previously reported.[] We have already reported two, and recently observed a third, Italian families with linkage to chromosome 2p11.1-q12.2.[] Cell lines are stored at the Galliera Genetic Bank (supported by the Italian Telethon Foundation).[]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Marchiafava Bignami Disease

    Bignami, Amico, Italian physician, 1862-1929. Marchiafava-Bignami disease - see under Marchiafava Marchiafava, Ettore, Italian pathologist, 1847-1935.[] History and etymology The disease was originally described in Italian alcoholic patients by Italian pathologists Ettore Marchiafava and Amico Bignami .[] In 1903 Marchiafava and Bignami, 2 Italian pathologists, described 3 men with alcoholism who died after having seizures and coma.[]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Cooley's Anemia

    Thalassemia is a hereditary disease that affected Italians and Greeks but now is spread over the world.[] Cooley’s anemia is disproportionately represented among people of Italian heritage.[] The disease was usually seen in children of southern European parentage—Greek, Syrian or Italian peoples—though it has been reported from many other races over the world.[]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Vulvitis

    STUDY DESIGN: Seven women with PCV underwent patch tests with the Italian standard series and with additional batteries of allergens (perfumes, preservatives, emulsifiers,[] […] i vulva , Vulvabetennelse Spanish vulvitis no especificada (trastorno) , vulvitis no especificada , vulvitis (trastorno) , vulvitis , Vulvitis Dutch vulvitis , Vulvitis Italian[] Betennelse i vulva, Vulvabetennelse Spanish vulvitis no especificada (trastorno), vulvitis no especificada, vulvitis (trastorno), vulvitis, Vulvitis Dutch vulvitis, Vulvitis Italian[]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Juvenile Neuronal Ceroid Lipofuscinosis

    […] affezione congenita che colpisce nell'infanzia, fra i 5 e i 10 anni, e causa l'improvvisa cecità di chi ne è affetto Dictionary source: Babylon English-Italian Dictionary[] Italian MedDRA Italian 10052082 L6005547 no S6887977 Y Malattia di Batten Italian MedDRA Italian 10054985 L6018873 no S6901303 Y Sindrome di Batten Japanese MedDRA Japanese[] Others rare diseases or genetic conditions with: ORPHANET is a database dedicated to information on rare diseases and orphan drugs (available in French , English , German , Italian[]

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