Sign-In
Cart
Infantile Krabbe disease
Paperback
Please select the version of book you would like to purchase.
ISBN10: 6207620305
ISBN13: 9786207620302
Publisher: Our Knowledge Publishing
Published: Jun 5 2024
Pages: 60
Weight: 0.22
Height: 0.14 Width: 6.00 Depth: 9.00
Language: English
ISBN13: 9786207620302
Publisher: Our Knowledge Publishing
Published: Jun 5 2024
Pages: 60
Weight: 0.22
Height: 0.14 Width: 6.00 Depth: 9.00
Language: English
Krabbe disease (MK), first described by Knud Krabbe in 1916, is a metabolic leukodystrophy caused by lysosomal overload. It is a rare, inherited autosomal recessive disease. It is caused by a mutation in the GALC gene leading to a deficiency in the GALC enzyme, which causes PSY to accumulate in lysosomes. MK presents a broad phenotypic spectrum, with signs that are sometimes non-specific, making diagnosis difficult. The most classic form is the early infantile form (MKIP). Main symptoms include non-specific general signs, axial hypotonia, stiffness, feeding difficulties and growth retardation. Cerebral MRI shows periventricular demyelinating leukodystrophy with a tigroid appearance. Diagnosis is confirmed by enzyme assay or genetic analysis. Stem cell or bone marrow transplantation can improve functional capacity and extend life expectancy. However, MKIP remains incurable, with death occurring before the age of 2.
Also from
Ellouz, Emna
Aceruloplasminämie Klinische Anzeichen und pathophysiologische Mechanismen
Ketata, Imen
Ellouz, Emna
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
Katcher, Neil
Nadelberg, David
Other
$20.00
Solidarity: The Past, Present, and Future of a World-Changing Idea
Hunt-Hendrix, Leah
Taylor, Astra
Hardcover
$14.99
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
Disciplining the Poor: Neoliberal Paternalism and the Persistent Power of Race
Fording, Richard C.
Schram, Sanford F.
Soss, Joe
Paperback
$58.00
Physics of the Future: How Science Will Shape Human Destiny and Our Daily Lives by the Year 2100
Kaku, Michio
Hardcover
$9.99
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
What If?2: Additional Serious Scientific Answers to Absurd Hypothetical Questions
Randall Munroe
Paperback
$14.99
How to Be Less Stupid about Race: On Racism, White Supremacy, and the Racial Divide
Fleming, Crystal M.
Hardcover
From $12.99
You Have Stept Out of Your Place: A History of Women and Religion in America
Lindley, Susan Hill
Paperback
$55.10
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
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
Yudkowsky, Eliezer
Soares, Nate
Hardcover
From $19.99
AI for Good: How Real People Are Using Artificial Intelligence to Fix Things That Matter
Tyrangiel, Josh
Hardcover
$27.55
There Is No Place for Us: Working and Homeless in America (Pulitzer Prize Winner)
Goldstone, Brian
Paperback
$18.00
The Story of Your Life: How Social Media Shapes the Way We Experience Everything
Jezer-Morton, Kathryn
Hardcover
$27.00
Doing Small Things with Great Love: How Everyday Humanitarians Are Changing the World
Eubank, Sharon
Hardcover
$23.74
American Alt: A True Story of Madness and Friendship in a Fractured Country
Lockhart, Chris
Hardcover
$27.00
There Is No Place for Us: Working and Homeless in America (Pulitzer Prize Winner)
Goldstone, Brian
Hardcover
$28.50
Like, Follow, Subscribe: Influencer Kids and the Cost of a Childhood Online
Latifi, Fortesa
Hardcover
$28.50
The Culting of America: What Makes a Cult and Why We Love Them
Reed, Amy
Mestyanek Young, Daniella
Hardcover
$33.25
Revenge of the Tipping Point: Overstories, Superspreaders, and the Rise of Social Engineering
Gladwell, Malcolm
Paperback
From $12.99
Life After Cars: Freeing Ourselves from the Tyranny of the Automobile
Naparstek, Aaron
Goodyear, Sarah
Gordon, Doug
Hardcover
$25.20
Expecting Better: Why the Conventional Pregnancy Wisdom Is Wrong--and What You Really Need to Know
Oster, Emily
Paperback
$17.10
Scream with Me: Horror Films and the Rise of American Feminism (1968-1980)
Johnson, Eleanor
Hardcover
$27.00
The Tribe and I Have Spoken: The Definitive (Unofficial) Lore and Legacy from the Game's Smartest Surviving Loser
Cesternino, Rob
Kavutskiy, Alex
Hardcover
$30.40
Let This Radicalize You: Organizing and the Revolution of Reciprocal Care
Hayes, Kelly
Kaba, Mariame
Paperback
From $10.99
Shadow Before the Flame: The Hindenburg Disaster and the Prelude to War
Katz, Catherine Grace
Hardcover
$36.10
Freedom Is a Constant Struggle: Ferguson, Palestine, and the Foundations of a Movement
Davis, Angela Y.
Paperback
From $10.99
Mailman: My Wild Ride Delivering the Mail in Appalachia and Finally Finding Home
Grant, Stephen Starring
Paperback
$17.10
The Power Broker (Pulitzer Prize Winner): Robert Moses and the Fall of New York
Caro, Robert A.
Paperback
$25.20
Who We Are Becoming Matters: The Courage, Wisdom, and Aloha We Need in a Timeplace of Collapse
Wong, Norma Kaweloku
Paperback
$17.96
One Bad Mother: In Praise of Psycho Housewives, Stage Parents, Momfluencers, and Other Women We Love to Hate
Dickson, Ej
Hardcover
$27.00
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
Girl on Girl: How Pop Culture Turned a Generation of Women Against Themselves
Gilbert, Sophie
Paperback
$18.00
Street Smarts: Trust Your Instincts, Outsmart Danger, and Stay Safe in a World That Isn't
Eve, Dannah
Hardcover
$25.65
Prophecy: Prediction, Power, and the Fight for the Future, from Ancient Oracles to AI
Veliz, Carissa
Hardcover
$31.50
From Life Itself: Turkey, Istanbul, and a Neighborhood in the Age of Erdoğan
Hansen, Suzy
Hardcover
$27.00
In Sickness and in Health: Love Stories from the Front Lines of America's Caregiving Crisis
Mauldin, Laura
Hardcover
$27.00
Pay Attention: How the Algorithms and Media Wars Are Suppressing Truth and Rewiring Your Brain
Pakman, David
Hardcover
$28.50
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
Killers of Roe: My Investigation Into the Mysterious Death of Abortion Rights
Littlefield, Amy
Hardcover
$27.00
Las Como Hablar para que Los Ninos Escuchen: y Como Escuchar para que los Ninos Hablen
Faber, Adele
Mazlish, Elaine
Paperback
$12.99
How to Break Up with Your Phone, Revised Edition: The 30-Day Digital Detox Plan
Price, Catherine
Paperback
$15.19
When Everyone Knows That Everyone Knows . . .: Common Knowledge and the Mysteries of Money, Power, and Everyday Life
Pinker, Steven
Hardcover
From $14.99
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
Hated by All the Right People: Tucker Carlson and the Unraveling of the Conservative Mind
Zengerle, Jason
Hardcover
$26.60
Mailman: My Wild Ride Delivering the Mail in Appalachia and Finally Finding Home
Grant, Stephen Starring
Hardcover
From $14.99
Midnight in Chernobyl: The Untold Story of the World's Greatest Nuclear Disaster
Higginbotham, Adam
Paperback
From $12.99
Nostalgic Word Search for Adults and Seniors (Large/Big Print) (Large Print Edition)
Press Books, D&e
Paperback
$10.99
Torched: How a City Was Left to Burn, and the Olympic Rush to Rebuild L.A.
Vigliotti, Jonathan
Hardcover
$27.00