In pompe disease - Study guides, Class notes & Summaries

NU 545 Chapter 01: Cellular Biology Test Bank LATEST UPDATE 2024 Questions and Answer solutions with Rationales Already GRADED A. H+ - ANS-hydrogen ions Na+ - ANS-sodium Cl- - ANS-chloride H2O2 - ANS-hydrogen peroxide H2O - ANS-water O2 - ANS-oxygen K+ - ANS-potassium Ca2+ - ANS-calcium Fe2+ - ANS-iron Zn+ - ANS-zinc HCO3- - ANS-bicarbonate H2CO3 - ANS-carbonic acid HPO42- - ANS-hydrogen phosphate Mg2+ - ANS-magnesium ...

NICU - IEM STUDY GUIDE TEST 2024. An infant begins feeding and has lethargy, jaundice, and liver failure. Labs show elevated LFTs and bilirubin, low glucose, low albumin, and hyperchloremic metabolis acidosis. What is this and what labs do you want to send? - Galactosemia due to galactose-1-phosphate-uridyltransferase deficiency. Urine reducing substances show increased galactose in urine. See elevated precursor: galactose-1-phosphate. What is the treatment for galactosemia? What are these i...

PNCB, Top Exam Questions and answers, 100% Accurate. Graded A+ when do babies tend to double their weight by - -4-6 months when do babies tend to triple their weight by - -12 months how many lbs do babies tend to gain per year from 2 years of age until adolescence - -5 lbs whattype of rash is noted on the eyelids with dermatomyositis - -heliotrope what type of study begins by identifing subjects with a disease or outcome and compares them with a group or subjects without the dis...

NICU – IEM Exam Questions & Answers 2023/2024 An infant begins feeding and has lethargy, jaundice, and liver failure. Labs show elevated LFTs and bilirubin, low glucose, low albumin, and hyperchloremic metabolis acidosis. What is this and what labs do you want to send? - ANSWER-Galactosemia due to galactose-1-phosphate-uridyltransferase deficiency. Urine reducing substances show increased galactose in urine. See elevated precursor: galactose-1-phosphate. What is the treatment for galac...

Absolute polycythemia - ANSWER excessive red blood cell production; a physiologic response resulting from increased erythropoietin secretion in response to chronic hypoxia or as a symptom of polycythemia vera. Absorption atelectasis - ANSWER see Atelectasis. Acid maltase deficiency (glycogen storage disease type II or Pompe disease) - ANSWER an autosomal recessive metabolic disorder that damages muscle and nerve cells throughout the body by an accumulation of glycogen in the lysosome attri...

Name diseases of glycogenolysis (Types 1, 2, 3 & 5) 1 = von Gierke, 2 = Pompe, 3 = Cori, 5 = McArdle Mallory bodies Alcoholic liver disease: intermediate filaments of hepatocyte cytoskeleton Damage to liver in hemochromatosis is due to what? Free radicals Hemosiderin an iron-storage protein primarily made in times of iron overload (eg, hemochromatosis) HFE gene muation Hemochromatosis With hemochromatosis, you will also get what? Cirrhosis, secondary DM, bronze skin, arrhythmia, gonad...

The peak velocity of aortic regurgitation indicates the maximum pressure gradient between: the aorta and the LV in systole the aorta and the LV in diastole the LV and the LA in diastole the LV and the LA in diastole - Answerthe aorta and the LV in diastole Which type of image resolution improves with proper placement of the focal zone at the area of interest? temporal lateral contrast elevational - AnswerLateral The tissue of the interventricular septum will be best vis...

ADVANCED PATHOPHYSIOLOGY EXAM QUESTIONS AND ANSWERS ALL CORRECT ADVANCED PATHOPHYSIOLOGY EXAM QUESTIONS AND ANSWERS ALL CORRECT Absolute polycythemia ANSWER - excessive red blood cell production; a physiologic response resulting from increased erythropoietin secretion in response to chronic hypoxia or as a symptom of polycythemia vera. Absorption atelectasis ANSWER - see Atelectasis. Acid maltase deficiency (glycogen storage disease type II or Pompe disease) ANSWER - an autosomal re...

BIOCHEM NBME EXAM GRADED A+ Hypercholesterolemia Autosomal dominant - mutation of the LDL receptor Marfan Syndrome autosomal dominant; mutation in the fibrillin that holds in the elastin; tall, weak heart Huntington's disease Autosomal dominant; CAG repeats in the huntingtin gene; huntingtin is involved in kinesin, dynein trafficing; characterized by uncontrollable body movements and degeneration of the nervous system; usually fatal 10 to 20 years after the onset of symptoms. Achondrop...

21 yo female college student acne x 4 days concerned about appearance because wedding in 3 weeks Obj - acute acne over face with predominance of comedones and pustules Initial step in tx? ---------- Correct Answer --------- Topical retinoic acid Acne vulgaris: Usually a self-limited disorder of teenagers and young adults. Comedones (small cyst formed in hair follicle) are clinical hallmark; often accompanied by inflammatory lesions of Papules, Pustules, or Nodules. May scar in severe ca...