Leukodystrophy - Study guides, Class notes & Summaries
Looking for the best study guides, study notes and summaries about Leukodystrophy? On this page you'll find 26 study documents about Leukodystrophy.
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leukodystrophy summary notes
- Summary • 16 pages • 2023
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Lewy Body Dementia: Information for Patients, Families, and Professionals 
This publication is meant to help people with Lewy body dementia, their families, and professionals learn about this disease and resources for coping.
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Dirty Medicine mnemonics exam 2023 with complete solution
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Dirty Medicine mnemonics exam 2023 with complete solution 
 
My FABRite activity is making a CERAMIc galaxy, sorry to seep HARPing on it 
Fabry disease 
Deficiency: α-galactosidase A 
Accumulation: ceramide 
Findings: hypohidrosis, angiokeratomas, renal failure, peripheral neuropathy 
OMGauch he's such a BRO 
Gaucher disease 
Deficiency: glucocerebrosidase 
Accumulation: glucocerebroside 
Findings: osteoporosis, most common, gross femoral head (AVN) 
A GANG of SIX SMALL Jews 
Tay-Sachs disease...
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USMLE step 1 - biochemistry Questions and Answers well Explained Latest 2024/2025 Update 100% Correct.
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what must happen in the nucleus so that 7-methylguanosine can be added to RNA in the cytosol? - 
5' capping 
treatment of hyperammonemia (HCV, urea cycle deficiency) - limit protein in diet 
benzoate, phenylbutarate (bind a.a.'s, increased aa exretion) 
actulose (acidify GI tract, trap NH4 for excretion) 
infant with somnolence, vomiting, cerebral edema, decreased BUN, hyperammonemia - ornithine 
transcarbamoylase deficiency 
infantile cataracts, doesn't track objects, absent social smile - g...
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Neuroscience Block 1
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TBI (traumatic brain injury) scale - Answer- 3-15, <8 = coma 
 
3-8: Severe 
9-12: Moderate 
13-15: Mild 
 
(Behavior should elicit response, each response has a point value for eye opening, verbal, and motor responses) 
 
Intraparenchymal hemorrhage is often caused by... - Answer- Hypertension 
 
Septum pellucidum is located... - Answer- Inferior to corpus callous, separates lateral ventricles 
 
Which cell organelle contributes to the phospholipid content of brain white matter? - Answer- Pe...
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USMLE step 1 – biochemistry Exam Questions & Answers 2023/2024
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USMLE step 1 – biochemistry Exam Questions & Answers 2023/2024 
 
infant with somnolence, vomiting, cerebral edema, decreased BUN, hyperammonemia - ANSWER-ornithine transcarbamoylase deficiency 
 
infantile cataracts, doesn't track objects, absent social smile - ANSWER-galactokinase deficiency 
 
infantile cataracts, hepatomegaly, jaundice, failure to thrive - ANSWER-uridyltransferase deficiency 
 
causes of Down syndrome - ANSWER-1) meiotic nondisjunction (95%) 
2) unbalanced robertsonian tr...
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USMLE step 1 – biochemistry Exam Questions with Complete Solutions
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infant with somnolence, vomiting, cerebral edema, decreased BUN, hyperammonemia - Answer-ornithine transcarbamoylase deficiency 
 
infantile cataracts, doesn't track objects, absent social smile - Answer-galactokinase deficiency 
 
infantile cataracts, hepatomegaly, jaundice, failure to thrive - Answer-uridyltransferase deficiency 
 
causes of Down syndrome - Answer-1) meiotic nondisjunction (95%) 
2) unbalanced robertsonian translocation (extra arm on Ch 21) 
3) mosaic trisomy 21 
 
treatment ...
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BMT CERTIFICATION COURSE FULL SOLUTION PACK ACTUAL QUESTIONS AND ANSWERS 2024-2025 WITH COMPLETE SOLUTION
- Exam (elaborations) • 48 pages • 2024
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BMT CERTIFICATION COURSE FULL SOLUTION PACK ACTUAL QUESTIONS AND ANSWERS WITH COMPLETE SOLUTION 
 
What does Red Bone marrow do Ans- Produces Hematopoietic Stem cells that create RBC, plt, and WBC found in long and flat bones 
 
Think: Red like red blood cells 
 
What does Yellow Bone Marrow do? Ans- Both Yellow marrow and fat cells produce stromal stem cells that produce fat, cartilage and bone 
 
Think yellow like fat 
 
Where are hematopoietic cells produced> Ans- in long bones du...
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BMTCN Study questions with 100% correct answers graded A+
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BMTCN StudyWhat are the two types of bone marrow? - correct answer Red bone marrow = creates red blood cells, white blood cells, and platelets. Found in long and flat bones. 
 
Yellow bone marrow and fat cells = produce fat, cartilage, and bone. Found in long bones 
 
What are the components of hematopoiesis? - correct answer Hematopoietic stem cells: develop prior to birth and are produced in the long bones during childhood and the axial skeleton in adulthood. 
 
Bone marrow microenvironmen...
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USMLE step 1 – biochemistry Practice Questions and Answers (100% Pass)
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USMLE step 1 – biochemistry Practice 
Questions and Answers (100% Pass) 
infant with somnolence, vomiting, cerebral edema, decreased BUN, 
hyperammonemia - Answer️️ -ornithine transcarbamoylase 
deficiency 
infantile cataracts, doesn't track objects, absent social smile - 
Answer️️ -galactokinase deficiency 
infantile cataracts, hepatomegaly, jaundice, failure to thrive - 
Answer️️ -uridyltransferase deficiency 
causes of Down syndrome - Answer️️ -1) meiotic nondisjunction 
(9...
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BMTCN Study questions n answers 2023/20024 verified to pass
- Exam (elaborations) • 4 pages • 2023
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BMTCN StudyWhat are the two types of bone marrow? - correct answer Red bone marrow = creates red blood cells, white blood cells, and platelets. Found in long and flat bones. 
 
Yellow bone marrow and fat cells = produce fat, cartilage, and bone. Found in long bones 
 
What are the components of hematopoiesis? - correct answer Hematopoietic stem cells: develop prior to birth and are produced in the long bones during childhood and the axial skeleton in adulthood. 
 
Bone marrow microenvironmen...
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