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  1. Studies of choroba_gauchera
    ScienceDirect
    Praca poglądowa/Review Choroba Gauchera – zalecenia dotyczące rozpoznawania, leczenia i monitorowaniaGaucher disease – recommendations concerning diagnosis, treatment and monitoring
    The following recommendations are the first complete document concerning the diagnosis, treatment and monitoring of Gaucher disease (GD) in Poland. GD is a rare, genetically determined storage disorder, involving deficiency or absence of glucocerebrosidase
    Published: 2017/10/01
    Cited By: 0
    Keywords: choroba G…
    ScienceDirect
    Praca poglądowa/Review Jak rozpoznawać i leczyć chorobę Gauchera: zarys patofizjologii, objawów klinicznych, metod diagnostycznych i leczeniaHow to recognize and treat Gaucher disease: an outline of pathophysiology, clinical symptoms, diagnostic methods and therapy
    Rare diseases are a diagnostic challenge for modern medicine. Gaucher disease is a rare autosomal recessive lipid storage disorder caused by the deficient activity of the lysosomal enzyme glucocerebrosidase. In the absence of known affected family member,
    Published: 2017/07/01
    Cited By: 0
    Keywords: glukocereb…
    ResearchGate
    Choroba Gauchera – zalecenia dotyczące rozpoznawania, leczenia i monitorowania
    The following recommendations are the first complete document concerning the diagnosis, treatment and monitoring of Gaucher disease (GD) in Poland. GD is a rare, genetically determined storage disorder, involving deficiency or absence of glucocerebrosidase
    Published: 2017/11/01
    DOI: 10.1016/j.achaem…
    ResearchGate
    Co hematolog powinien wiedzieć o chorobie Gauchera
    Hematological symptoms can be helpful for the diagnosis of inherited metabolic disorders, including Gaucher disease. Gaucher disease is a progressive, multisystem lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme, glucocerebrosidase,
    Author: Maciej Machac…
    Published: 2013/07/01
    DOI: 10.1016/j.achaem…
  2. Centrum Medyczne Medicover
    https://www.medicover.pl/choroby/genetyczne/choroba-gauchera

    Choroba Gauchera – objawy, leczenie, przyczyny

  3. Wikipedii
    https://pl.wikipedia.org/wiki/Choroba_Gauchera

    Choroba Gauchera – Wikipedia, wolna encyklopedia

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    Choroba Gauchera – przyczyny, objawy, diagnostyka i …
    portal.abczdrowie.pl
    Choroba Gauchera - objawy, dziedziczenie, leczenie, dieta
    medme.pl
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  4. Gaucher's disease

    Content medically reviewed by
    Dr. Rakshith Bharadwajverified specialist
    MD, Internal Medicine
    View full profile onLinkedIn logoLinkedIn
    A rare genetic disorder caused by deficiency of enzyme glucocerebrosidase. This cause fatigue and abdominal pain.
    How common is condition?
    Rare (Fewer than 200,000 cases per year in US)
    Is condition treatable?
    Treatments can help manage condition, no known cure
    Does diagnosis require lab test or imaging?
    Requires lab test or imaging
    Time taken for recovery
    Can last several years or be lifelong
    Condition Highlight
    Family history may increase likelihood
    Condition Image
    Source: Focus Medica . For informational purposes only. Consult a medical professional for advice. Learn more
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  5. People also ask
    How does Gaucher disease affect glucocerebroside?
    In Gaucher disease, the enzyme is unable to function correctly and glucocerebroside accumulates. The macrophages that clear these cells are unable to eliminate the waste product, which accumulates in fibrils, and turn into 'Gaucher cells', which appear on light microscopy to resemble crumpled-up paper.

    Gaucher's disease - Wikipedia

    en.wikipedia.org
    What is Gaucher disease lysosomal storage disorder?
    It is one of the most common lysosomal storage disorders. What Causes Gaucher Disease? Gaucher disease is caused by low levels of glucocerebrosidase (GCase), an enzyme that breaks down a fatty chemical in the body called glucocerebroside. Gaucher cells are normal scavenger cells called macrophages that become full of unprocessed glucocerebroside.

    What Is Gaucher Disease? | National Gaucher Foundation

    gaucherdisease.org
    Is Gaucher disease a heterogenic disease?
    Gaucher disease is characterised by a heterogenic disease course and is rarely considered in differential diagnosis. This presents a major problem, as correct diagnosis and treatment implementation are often delayed by many years. This can lead to serious complications and even premature death of the patient.

    Choroba Gauchera – zalecenia dotyczące rozpoznawania, leczenia i

    sciencedirect.com
    Do sphingolipids play a role in inflammatory processes in Gaucher disease?
    The role of inflammatory processes in Gaucher disease is poorly elucidated. However, sphingolipids are known to participate in inflammation and apoptosis, and markers of macrophage activation are elevated in people with Gaucher disease.

    Gaucher's disease - Wikipedia

    en.wikipedia.org
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  6. Wikipedia
    https://en.wikipedia.org/wiki/Gaucher's_disease

    Gaucher's disease - Wikipedia

    Explore further

    Gaucher Disease Life Expectancy & Prognosis - National …
    gaucherdisease.org
    Gaucher disease - Symptoms and causes - Mayo Clinic
    mayoclinic.org
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  7. ScienceDirect
    https://www.sciencedirect.com/science/article/pii/S0001581417301469

    Choroba Gauchera – zalecenia dotyczące rozpoznawania, …

  8. National Gaucher Foundation
    https://www.gaucherdisease.org/about-gauch…

    What Is Gaucher Disease? | National Gaucher Foundation

    WebGaucher disease is caused by low levels of glucocerebrosidase (GCase), an enzyme that breaks down a fatty chemical in the body called glucocerebroside. Gaucher cells are normal scavenger cells called …

  10. Medme.pl
    https://www.medme.pl/choroby/choroba-gauchera,69.html

    Choroba Gauchera - objawy, dziedziczenie, leczenie, dieta …

  11. ScienceDirect
    https://www.sciencedirect.com/science/article/pii/S0001581417300762

    Jak rozpoznawać i leczyć chorobę Gauchera: zarys …

  12. ResearchGate
    https://www.researchgate.net/publication/318674777...

    (PDF) Jak rozpoznawać i leczyć chorobę Gauchera

  13. ResearchGate
    https://www.researchgate.net/publication/320873…

    Choroba Gauchera – zalecenia dotyczące rozpoznawania, …

    WebNov 1, 2017 · GD is a rare, genetically determined storage disorder, involving deficiency or absence of glucocerebrosidase activity, a lysosomal enzyme that digests glucosylceramide. Glucosylceramide excessively...

  14. WP abcZdrowie
    https://portal.abczdrowie.pl/choroba-gauchera

    Choroba Gauchera – przyczyny, objawy, diagnostyka i …

    WebMar 29, 2021 · Choroba Gauchera (ang. Gaucher disease) jest uwarunkowaną genetycznie lizosomalną chorobą spichrzeniową. Związana jest z osłabionym działaniem lub znacznie obniżoną …

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