Sign-In
Cart
Doença de Krabbe infantil
Paperback
Please select the version of book you would like to purchase.
ISBN10: 620762033X
ISBN13: 9786207620333
Publisher: Edicoes Nosso Conhecimento
Published: Jun 5 2024
Pages: 60
Weight: 0.22
Height: 0.14 Width: 6.00 Depth: 9.00
Language: Portuguese
ISBN13: 9786207620333
Publisher: Edicoes Nosso Conhecimento
Published: Jun 5 2024
Pages: 60
Weight: 0.22
Height: 0.14 Width: 6.00 Depth: 9.00
Language: Portuguese
A doença de Krabbe (MK), descrita pela primeira vez por Knud Krabbe em 1916, é uma leucodistrofia metabólica causada por uma sobrecarga lisossómica. Trata-se de uma doença hereditária autossómica recessiva rara. É causada por uma mutação no gene GALC que conduz a uma deficiência na enzima GALC, o que provoca a acumulação de PSY nos lisossomas. A MK apresenta um amplo espetro fenotÃpico, com sinais por vezes inespecÃficos, o que dificulta o diagnóstico. A forma mais clássica é a forma infantil precoce (MKIP). Os principais sintomas incluem sinais gerais inespecÃficos, hipotonia axial, rigidez, dificuldades de alimentação e atraso no crescimento. A RMN cerebral mostra uma leucodistrofia desmielinizante periventricular com um aspeto tigrado. O diagnóstico é confirmado por um ensaio enzimático ou por uma análise genética. Um transplante de células estaminais ou de medula óssea pode melhorar a capacidade funcional e prolongar a esperança de vida. No entanto, a MKIP permanece incurável, com a morte a ocorrer antes dos 2 anos de idade.
Also from
Ellouz, Emna
Aceruloplasminämie Klinische Anzeichen und pathophysiologische Mechanismen
Ellouz, Emna
Ketata, Imen
Paperback
$60.00
Aceruloplasminemia Clinical signs and pathophysiological mechanisms
Ellouz, Emna
Ketata, Imen
Paperback
$60.00
Also in
General Sociology
I Can't Believe I Did That: The Game That Gives You Points for Sharing Awkward, Awesome, and Unforgettable Memories: Card Games
Nadelberg, David
Katcher, Neil
Other
$20.00
Designed for Hi-Fi Living: The Vinyl LP in Midcentury America
Borgerson, Janet
Schroeder, Jonathan
Paperback
From $11.99
Guerrilleros and Neighbours in Arms: Identities & Cultures of Anti-Fascist Resistance in Spain
Marco
Paperback
From $24.99
Urban Revolutions: Urbanisation and (Neo-)Colonialism in Transatlantic Context
Kipfer, Stefan
Paperback
$43.50
The Destiny of Modern Societies: The Calvinist Predestination of a New Society
Zafirovski, Milan
Paperback
$72.50
The Agrarian Seeds of Empire: The Political Economy of Agriculture in Us State Building
Bauerly, Brad
Paperback
$43.50
The Sociogony: Social Facts and the Ontology of Objects, Things, and Monsters
Worrell, Mark P.
Paperback
$43.50
Revolution and Its Alternatives: Other Marxisms, Other Empowerments, Other Priorities
Brass, Tom
Paperback
$43.50
How to Be Less Stupid about Race: On Racism, White Supremacy, and the Racial Divide
Fleming, Crystal M.
Hardcover
From $12.99
The Day It Finally Happens: Alien Contact, Dinosaur Parks, Immortal Humans--And Other Possible Phenomena
Pearl, Mike
Paperback
$19.00
Building Communities from the Inside Out: A Path Toward Finding and Mobilizing a Community's Assets
Kretzmann, John P.
Paperback
$9.99
Something New Under the Sun: An Environmental History of the Twentieth-Century World
McNeill, J. R.
Paperback
$10.99
Too Many People?: Population, Immigration, and the Environmental Crisis
Butler, Simon
Angus, Ian
Paperback
$27.55
Screening Out the Past: The Birth of Mass Culture and the Motion Picture Industry
May, Lary
Paperback
$42.00
The Clash of Globalizations: Neo-Liberalism, the Third Way and Anti-Globalization
Kiely, Ray
Paperback
$30.00
Aging Out: An Exploration of Caregiving, Community, and How Americans Grow Old
Schiller, Lucy
Hardcover
$26.99
If Anyone Builds It, Everyone Dies: Why Superhuman AI Would Kill Us All
Soares, Nate
Yudkowsky, Eliezer
Hardcover
$28.50
There Is No Place for Us: Working and Homeless in America (Pulitzer Prize Winner)
Goldstone, Brian
Paperback
$18.00
AI for Good: How Real People Are Using Artificial Intelligence to Fix Things That Matter
Tyrangiel, Josh
Hardcover
$27.55
Shadow Before the Flame: The Hindenburg Disaster and the Prelude to War
Katz, Catherine Grace
Hardcover
$31.50
The Story of Your Life: How Social Media Shapes the Way We Experience Everything
Jezer-Morton, Kathryn
Hardcover
$27.00
Pay Attention: How the Algorithms and Media Wars Are Suppressing Truth and Rewiring Your Brain
Pakman, David
Hardcover
$28.50
American Alt: A True Story of Madness and Friendship in a Fractured Country
Lockhart, Chris
Hardcover
$27.00
Doing Small Things with Great Love: How Everyday Humanitarians Are Changing the World
Eubank, Sharon
Hardcover
$23.74
The Goddess That Failed: Feminism's Unending War against Men, Families, and Civilization Itself
Fiamengo, Janice
Paperback
$23.74
Expecting Better: Why the Conventional Pregnancy Wisdom Is Wrong--and What You Really Need to Know
Oster, Emily
Paperback
$18.05
Mailman: My Wild Ride Delivering the Mail in Appalachia and Finally Finding Home
Grant, Stephen Starring
Paperback
$17.10
The Culting of America: What Makes a Cult and Why We Love Them
Reed, Amy
Mestyanek Young, Daniella
Hardcover
$33.25
Like, Follow, Subscribe: Influencer Kids and the Cost of a Childhood Online
Latifi, Fortesa
Hardcover
$28.50
The New Dark Ages: The Death of Reading and the Dawn of the Post-Literate Society
Marriott, James
Hardcover
$23.40
There Is No Place for Us: Working and Homeless in America (Pulitzer Prize Winner)
Goldstone, Brian
Hardcover
$28.50
Freedom Is a Constant Struggle: Ferguson, Palestine, and the Foundations of a Movement
Davis, Angela Y.
Paperback
From $10.99
An American Girl: How a Billion-Dollar Doll and Its Unlikely Founder Changed Girlhood Forever
Fitzsimons, Amanda
Hardcover
$27.00
Decreation: Poetry, Essays, Opera (by the Winner of the Nobel Prize in Literature)
Carson, Anne
Paperback
$18.05
Revenge of the Tipping Point: Overstories, Superspreaders, and the Rise of Social Engineering
Gladwell, Malcolm
Paperback
From $12.99
The Tribe and I Have Spoken: The Definitive (Unofficial) Lore and Legacy from the Game's Smartest Surviving Loser
Kavutskiy, Alex
Cesternino, Rob
Hardcover
$30.40
Let This Radicalize You: Organizing and the Revolution of Reciprocal Care
Hayes, Kelly
Kaba, Mariame
Paperback
From $10.99
Life After Cars: Freeing Ourselves from the Tyranny of the Automobile
Naparstek, Aaron
Goodyear, Sarah
Gordon, Doug
Hardcover
$25.20
The Power Broker (Pulitzer Prize Winner): Robert Moses and the Fall of New York
Caro, Robert A.
Paperback
$25.20
Girl on Girl: How Pop Culture Turned a Generation of Women Against Themselves
Gilbert, Sophie
Paperback
$18.00
Scream with Me: Horror Films and the Rise of American Feminism (1968-1980)
Johnson, Eleanor
Hardcover
$28.50
Prophecy: Prediction, Power, and the Fight for the Future, from Ancient Oracles to AI
Veliz, Carissa
Hardcover
From $19.99
Who We Are Becoming Matters: The Courage, Wisdom, and Aloha We Need in a Timeplace of Collapse
Wong, Norma Kaweloku
Paperback
$17.96
Why We Ask Why: The Science of Explanation and the Human Drive to Understand
Lombrozo, Tania
Hardcover
$27.00
Midnight in Chernobyl: The Untold Story of the World's Greatest Nuclear Disaster
Higginbotham, Adam
Paperback
From $12.99
Our Minds Were Always Free: A History of How Black Brilliance Was Exploited--And the Fight to Retake Control
Davis, Lisa E.
Hardcover
$26.10
From Life Itself: Turkey, Istanbul, and a Neighborhood in the Age of Erdoğan
Hansen, Suzy
Hardcover
$27.00
One Bad Mother: In Praise of Psycho Housewives, Stage Parents, Momfluencers, and Other Women We Love to Hate
Dickson, Ej
Hardcover
$27.00
The Unsettling of America (50th Anniversary Edition): Culture and Agriculture
Berry, Wendell
Paperback
$18.00
The Fourth Turning: What the Cycles of History Tell Us about America's Next Rendezvous with Destiny
Howe, Neil
Strauss, William
Paperback
$20.90
Te vas a morir y todavía no has empezado a vivir: 29 principios para vivir mejor (y con más sentido)
Moreno Montana, Uli
Falces, Laura
Paperback
$16.79
In Sickness and in Health: Love Stories from the Front Lines of America's Caregiving Crisis
Mauldin, Laura
Hardcover
$27.00
How to Break Up with Your Phone, Revised Edition: The 30-Day Digital Detox Plan
Price, Catherine
Paperback
$15.19
Street Smarts: Trust Your Instincts, Outsmart Danger, and Stay Safe in a World That Isn't
Eve, Dannah
Hardcover
$25.65
Las Como Hablar para que Los Ninos Escuchen: y Como Escuchar para que los Ninos Hablen
Faber, Adele
Mazlish, Elaine
Paperback
$12.99
The Agatha Christie Cure: What Reading the Queen of Crime Taught Me about Life
Rentzenbrink, Cathy
Hardcover
$28.80
One Nation Under Blackmail - Vol. 1: The Sordid Union Between Intelligence and Crime That Gave Rise to Jeffrey Epstein, Vol.1
Webb, Whitney Alyse
Paperback
$23.70
Obsolete: The AI Industry's Trillion Dollar Race to Replace Us--And How to Stop It
Lovely, Garrison
Paperback
$21.80
Killers of Roe: My Investigation Into the Mysterious Death of Abortion Rights
Littlefield, Amy
Hardcover
$27.00