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8,699 Possible Causes for Autophagic Vacuoles Seen on Biopsy, Growth Retardation, Italian

  • Cooley's Anemia

    Thalassemia is a hereditary disease that affected Italians and Greeks but now is spread over the world.[capegazette.com] Growth retardation in iron-overloaded patients is the result of growth hormone deficiency in up to 30% of patients.[ncbi.nlm.nih.gov] Cooley’s anemia is disproportionately represented among people of Italian heritage.[marinolodge.org]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Hereditary Fructose Intolerance

    METHODS: Here we report the molecular results in an Italian cohort: on the occurrence of aldolase B mutations and, in particular, on the clinical and molecular characterization[ncbi.nlm.nih.gov] In two unrelated boys, 5.3 and 3.8 years of age with hereditary fructose intolerance, apparently isolated growth retardation (-2.71 S.D. and -2.40 S.D.) occurred after infancy[ncbi.nlm.nih.gov] We have investigated the occurrence of these mutations in 11 Italian patients affected by HFI using PCR and hybridisation to specific oligomers.[ncbi.nlm.nih.gov]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Fucosidosis

    retardation.[ncbi.nlm.nih.gov] 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.[ncbi.nlm.nih.gov] retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.[orpha.net]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Iron Deficiency Anemia

    We report a case of a 14-year-old boy who presented with iron deficiency anemia, hepatosplenomegaly, geophagia and growth retardation with pubertal delay.[ncbi.nlm.nih.gov] AIMS: This study investigates the association between DMT1 IVS4 44C A and anemia in a cohort of 387 Italian celiac children, and the functional role of the polymorphism.[ncbi.nlm.nih.gov] The changing clinical profile of celiac disease: a 15-year experience (1998–2012) in an Italian referral center. BMC Gastroenterol. 14, 194 (2014). 10. Fasano, A.[dx.doi.org]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Celiac Disease

    In infants and young children with untreated celiac disease, failure to thrive and growth retardation are relatively common.[symptoma.com] METHODS: The Italian Association of Hospital Gastroenterologists and Endoscopists (AIGO) commissioned a panel of experts to prepare a position statement clarifying the nomenclature[ncbi.nlm.nih.gov] Celiac disease as a cause of growth retardation in childhood. Curr Opin Pediatr. 2004; 16 :445–449. [ PubMed ] [ Google Scholar ] 9.[ncbi.nlm.nih.gov]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Neuronal Ceroid Lipofuscinosis

    We detected a novel CLN1 mutation (c.125-15t g) in two Italian siblings.[ncbi.nlm.nih.gov] […] iron overload - lactic acidosis - early death Growth retardation-mild developmental delay-chronic hepatitis syndrome GSD due to acid maltase deficiency, adult onset GSD due[csbg.cnb.csic.es] Our observations provide the first molecular characterization of an Italian INCL patient and expand the list of the known defects in INCL.[ncbi.nlm.nih.gov]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • CINCA Syndrome

    Morphological features Obvious features include progressive growth retardation leading to short stature (Fig 3); head enlargement due to delay in closure of fontanelles, which[healio.com] ASC gene, encoding for a direct interactor of cryopyrin, was not mutated in Italian CINCA patients.[ncbi.nlm.nih.gov] Growth retardation, brain atrophy, amyloidosis, retinal scarring and many other systemic complications may occur and can significantly impair the quality of life.[symptoma.com]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

    […] disorders, and growth retardation Adult-Onset Type: Learning disabilities, avoidance of high-protein content food, confusion, and ataxia Provide adequate hydration and calories[accessanesthesiology.mhmedical.com] Pronunciation Italian Pronunciation Italian Pronunciation Italian Pronunciation Italian Pronunciation Japanese Pronunciation Japanese Pronunciation Japanese Pronunciation[pronouncekiwi.com] 12,0 26,0 28,0 Yes No No Yes 1 Yes Yes 50 m Italian 18,0 21,0 29,0 Yes Yes Yes No 1 Yes Yes 505 Yes Yes No No 2 Yes Yes 780 51 f Italian 3,0 7,0 24,0 52 f Italian 1,0 33,0[docksci.com]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Lysinuric Protein Intolerance

    Our two patients with lysinuric protein intolerance, a 14-year-old boy and his 12-year-old sister, showed growth retardation and their bone ages were retarded.[ncbi.nlm.nih.gov] Nine Italian patients (seven independent families), all originating from southern Italy, observed during the last 14 years.[ncbi.nlm.nih.gov] retardation.[ncbi.nlm.nih.gov]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Zinc Deficiency

    Zinc deficiency should be carefully ruled out in patients with growth retardation.[ncbi.nlm.nih.gov] When region was considered separately the relationship was evident only in the Italian group (F (1,96) 4.193, P 0.043) ( Figure 4 ).[doi.org] KEYWORDS: Anti-inflammatory agent; Antioxidant; Growth retardation; Immunity; Zinc[ncbi.nlm.nih.gov]

    Missing: Autophagic Vacuoles Seen on Biopsy

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