Why is it important to diagnose type i gaucher disease as soon as possible after birth?

Answers

Answer 1
Gaucher disease is a genetic disorder that was causing a defect in a certain enzyme. This lack of enzyme will result in accumulation of glucocerebroside.
Since it is a genetic disorder, all of the patients would be a child that still growing. The symptoms could impede their growth and might be resulting in a permanent disability. If the patient diagnosed early, enzyme replacement therapy can reduce the symptoms and allow the patient to grow disturbance, preventing long term damage.

Related Questions

Why are habitats that are more diverse and have a higher diversity index more stable?

Answers

Known as biodiversity, the more diverse a habitat and its population, the better the community production and resistance to danger or change.

A student analyzed ears of corn that demonstrated two traits in the F2 kernels, purple or white colors and smooth or wrinkled shapes. A tabulation of 135 individual kernels gave the following results:

purple and smooth = 75
white and smooth = 28
purple and wrinkled = 24
white and wrinkled = 8

The alleles are dominant.


purple and smooth

purple and wrinkled

white and wrinkled

white and smooth

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I think your answer is purple and smooth or white and smooth. They both can be right.

i picked white an smooth..

Hydrocarbons are which type of macromolecule and what elements make them up?

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the correct answer is macromolecules are very large hydrocarbons constituted, what makes up macromolecules is hydrogen, oxygen, nitrogen and sometimes sulfur, I hope this is correct and helps you.

How do aerobic bacteria differ from anaerobic bacteria?

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Aerobic means 'with oxygen', and Anaerobic means 'without oxygen'. Hope this helps! :)

What role does catalase play in this reaction of anenzyme?

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Catalase is an enzyme that helps chemical reactions occur

1.) The ...blank... hypothesis suggests that our solar system evolved from a huge rotating cloud of dust and gas.

2.) Lines of ...blank... are used to measure distances east or west of the prime meridian in degrees.

3.) The major difference between a topographic map and other maps is that s topographic map shows ...blank... .

Answers

1. nebular
2. longitude
3. elevation

:)

Answer:

1. The nebular hypothesis suggests that our solar system evolved from a huge rotating cloud of dust and gas.

2.) Lines of longitude are used to measure distances east or west of the prime meridian in degrees.

3.) The major difference between a topographic map and other maps is that s topographic map shows elevation.

Explanation:

The nebular hypothesis is the most widely accepted hypothesis to describe the formation of the solar system. It states that the solar system born from a nebula, which is a cloud of atoms and molecules in the outer space.

Latitudes and longitudes are the units of the geographic coordinate system. Every address in the world has a set of coordinates, latitude, and longitude. Latitude divides the globe in north and south from the equatorial plane, while longitude divides the globe in west and east from the Greenwich Meridian.

A topographic map shows the topography. Although there are many methods, usually it has contour lines to indicate points with similar elevation. 

Raul valladares has a protrusion of a muscle substance through a tear in the fascia surrounding it. this condition is known as

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Raul valladares has a condition known as Myocele

______________ are liquids or gels that help lower the number of pathogens on skin

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they are called hand antiseptics.
Final answer:

Antibacterial substances or surfactants like soaps, gels, and certain detergents help lower the number of pathogens on skin. They work by reducing surface tension of water and disrupting cell membranes. However, completely eradicating all bacteria from the skin is not advisable as some nonpathogenic bacteria help control the growth of pathogenic ones.

Explanation:

The substances that are liquids or gels that help lower the number of pathogens on skin are commonly referred to as antibacterial substances or surfactants. These include soaps, alcohol-based gels, and certain detergents. They operate by lowering the surface tension of water, enabling the mechanical washing away of microbes, and disrupting cell membranes. Every day examples include hand washing with soap and water or using an alcohol-based hand gel.

Aside from surfactants, the body has its own physical and chemical barriers that work against pathogens. The skin, for example, serves as a continuous barrier against potential infections. Further, some of the lipids and fatty acids in sebum (an oily secretion on the skin) can inhibit microbial growth.

It's important to note, however, that completely ridding our skin of bacteria would be harmful. We need nonpathogenic bacteria on our skin to keep pathogenic ones from thriving. So while antibacterial products are useful, they don't and shouldn't eradicate all bacteria.

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Runners who eat pancakes and pasta before a race choose these foods because these foods provide extra

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The answer is extra carbs for the body.
protein, carbs and fats (basically energy)

what are the two specific concerns of species diversity

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Specific diversity , specific evenness

The answer is (species richness) and (species evenness) for plato.

A person's thyroid does not work correctly. What problem would he most likely have?

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the person would have a problem with his metabolism.

Final answer:

A person with an incorrectly working thyroid could suffer from hypothyroidism if the gland is underactive, showing symptoms like weight gain and fatigue, or hyperthyroidism if overactive, with symptoms such as weight loss and increased heart rate. Goiter, related to iodine deficiency, typically leads to hypothyroidism symptoms. Symptoms of thyroid issues can be subtle and might not always be obvious.

Explanation:

If a person's thyroid does not work correctly, they could experience a variety of symptoms depending on whether the gland is overactive (hyperthyroidism) or underactive (hypothyroidism). For example, if a patient exhibits symptoms such as weight gain, cold sensitivity, low heart rate, and fatigue, they are most likely experiencing hypothyroidism, where the thyroid gland does not produce enough thyroid hormone crucial for metabolism. On the other hand, if a patient shows symptoms of weight loss, profuse sweating, increased heart rate, and difficulty sleeping, they would most likely be diagnosed with hyperthyroidism, where the thyroid gland is overactive.

When discussing goiter, which is a condition caused by iodine deficiency, the thyroid gland is unable to produce sufficient T3 and T4 hormones. As a result, an increase in thyroid-stimulating hormone (TSH) is produced to compensate. Common symptoms would hence include those associated with hypothyroidism such as weight gain, cold sensitivity, and reduced mental activity.

It's a myth that one will always be aware of a thyroid problem due to obvious symptoms; often, symptoms can be subtle or mistaken for other health issues.

The _____ gland has sometimes been called the "master gland" because it controls the functioning of the rest of the endocrine system.

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Pituitary gland is called master gland ...... and hypothalamus is called as master of the master gland as it controls pituitary gland.

What type of lava flows from a shield volcano

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Shield volcanoes have a type of lava that is very fluid when it erupts. Explosions only happen if water somehow gets into the vent, otherwise they are low-explosivity and form cones and the vent.

Answer:

Shield volcanoes have a type of lava that is very fluid when it erupts. Explosions only happen if water somehow gets into the vent, otherwise they are low-explosivity and form cones and the vent.

Explanation:

Which of these statements best describes a scientific theory? it is a description of an observation which does not change over time. it is a description of an observation after research over a period of time. it is an explanation for an observation which is not based on data. it is an explanation for an observation after several valid experiments?

Answers

it is an explanation for an observation after several valid experiments?

Answer: The correct answer is- It is an explanation for an observation after several valid experiments.


A scientific theory can be described as an explanation of a fact that can be tested and verified with the help of repeated experiments, using particular protocol of experiment that involves measurement, and evaluation of results.

In other words, It is the interpretation and explanation of the facts that are observed through various experiments.

Thus, it is an explanation for an observation after several valid experiments.


The _______ is the smooth, triangular surface where the anterior surface of the scapula faces the ribs.

Answers

the Subcapular fossa is the answer

What time should i quit eating for a 12:30 p.m. colonoscopy?

Answers

You should not be eating any solid foods within two days of your colonoscopy. Additionally, you should not be eating anything, solid or liquid within two hours of the colonoscopy.

Hope this helped.  
Final answer:

You should stop eating solid food the day before a colonoscopy scheduled for 12:30 p.m. Clear liquids are typically allowed until 2 hours before the procedure. Always follow your doctor's specific instructions.

Explanation:

Generally, for a 12:30 p.m. colonoscopy, you should stop eating solid food the day before the procedure. Clear liquids are usually allowed up until 2 hours before the colonoscopy. This ensures that your colon is completely clean for the procedure. However, these instructions can vary depending on the doctor's guidelines, so it's crucial to follow the specific preparation instructions provided by your doctor or the medical facility.

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diseases such as typhoid and amoebiasis are associated with? A.) air pollution B.) water pollution C.) soil pollution or D.) nutrient pollution

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Water pollution is your answer
b. water pollution is the answer

Sperm in the lumen are unable to move independently and require ________ to move through the tubules of the testes.

Answers

I believe the answer would be semen

Answer:

The correct answer would be smooth muscle contractions.

The testes ducts include seminiferous tubules, rete testis, epididymis, vasa deferens and urethra.

The seminiferous tubules serves as the site of sperm formation. They then migrate to epididymis for storage and maturation.

The sperm then migrate to vasa deferens from epididymis when the penis gets erected.

When sufficient stimulation is achieved, the vasa deferens propels the sperm forward with the help of smooth muscle contractions.

What is the name of lumbar sacral and coccygeal spinal nerves?

Answers

The lumbar nerves exit the intervertebral foramen under the pedicle of the same numbered vertebral body.

lumbar sacral: intervertebral
coccygeal: vertebral

The _____ includes the pinna, the ear canal, and the eardrum.

Answers

Answer:  "outer ear".
______________________________________________
outer ear is the right answer.... hope this helps you

Which organelle synthesizes proteins that are used in the cytoplasm?

Answers

Ribosomes are responsible for protein biosynthesis
Final answer:

In biology, the Ribosome is the organelle that synthesizes proteins which are used in the cytoplasm. This process is called translation and is crucial for cell function.

Explanation:

The organelle that synthesizes proteins which are used in the cytoplasm is the Ribosome. Ribosomes are small, spherical organelles that are found in every living cell and are sites where protein synthesis occurs. This process is called translation, where the genetic information from RNA is read to create proteins. These proteins will then perform a variety of functions in the cell, including acting as enzymes, structural proteins, or signaling molecules.

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Compare the number of vacuoles in plant cells and animal cells

Answers

Plant cells only have one large vacuole, while animal cells have multiple smaller vacuoles.
Final answer:

Plant cells contain a singular large central vacuole that can take up most of the cell's volume, while animal cells possess multiple smaller vacuoles. The large central vacuole in plant cells assists in structural support, storage, and waste disposal, functions that are handled more discretely in animal cells without contributing to rigidity.

Explanation:

Plant and animal cells both contain vacuoles, but the number and size of these organelles vary significantly between the two. In plant cells, there is typically a single large central vacuole that may occupy up to 90% of the cell's volume. This vacuole plays a critical role in maintaining the cell's structure, storing nutrients, and managing waste products. Conversely, animal cells typically have smaller and more numerous vacuoles. The primary role of animal vacuoles is similar in terms of storage and waste disposal, but they do not contribute to the cell's rigidity as plant vacuoles do because animal cells lack a rigid cell wall.

It’s also important to note that plant cells possess other structures not found in animal cells, such as a cell wall made of cellulose, chloroplasts for photosynthesis, and plastids used for storage. Conversely, animal cells contain lysosomes and centrosomes, which are not commonly found in plant cells. These differences are fundamental to the diverse functions and life processes of plant and animal cells.

A) ATP is produced by cellular respiration in your human body cells. There are a variety of enzymes that work to produce ATP, but one of those enzymes is called phosphofructokinase-1. This enzyme is sensitive to blood acidity. Blood can become more acidic if a patient is in respiratory distress. 4. Variable affecting enzyme function: ___________________________________________________

Answers

An enzyme is sensitive to the environmental conditions. It is affected by various chemical and physical factors. Changes in the environmental factors denatures the enzyme.

4 Variable affecting an enzyme function are as follows:
1. pH: An enzyme is affected by change in pH. Every enzyme has its own specific pH at which it works ideally. 
2. Temperature: An enzyme works best at ideal temperature. Increase or decrease in the temperature causes denaturation of enzyme.
3. ATP: Increase or decrease in the amount of ATP also affects the function of an enzyme.
4. Product: Increase or decrease in the amount of product also affects the ideal functioning of an enzyme. 
Blood acidity is a variable which affects the functioning of the enzyme phosphofructokinase-1. Blood acidity can increase if a patient is in respiratory distress, making respiratory distress another variable which effects the functioning of the enzyme.

Monozygotic twins share _____ percent of their genes.

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Monozygous twins share 100% of their genes absolutely because they come from a single ovule that was divided into several parts in the pregnancy and during its growth small genetic variations occur. These types of twins are natural clones and can share their DNA.

What is not a negative side effects of the escalating costs of malpractice insurance?

Answers

Care providers paying higher malpractice insurance will be deterred even more from committing malpractice. They will take measures to assure this.

Process that tests a hypothesis by collecting information under controlled conditions is called

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Answer:  an "experiment" .
____________________________

The primary means through which humans adapt to their environment is:

Answers

Homeostasis, is the natural adaption of the environment

What are the 3 things that all organisms are capable of doing? These are also known as the challenges of life.
A) working, growing, eating food
B) photosynthesis, reproducing, growing
C) growing, processing nutrients, reproducing
D) running, breathing, watching TV

Answers

C) growing, processing nutrients, reproducing Let's look at the 4 options and see which makes sense. A) working, growing, eating food * Not so sure about all organisms being able to work. Also the eating food part seems questionable to be, depending upon how you define eating. After all, plants don't eat like you may consider eating. There's likely to be a better choice later. So consider this wrong for now. B) photosynthesis, reproducing, growing * There's an immediate problem with this choice. Plants do perform photosynthesis and are considered alive. But animals don't. So photosynthesis isn't something all organisms can do. So this is a wrong choice. C) growing, processing nutrients, reproducing * Can't see anything wrong here. An organism needs to grow. It has to process nutrients in order to grow. And if it doesn't reproduce, it will eventually die and leave nothing behind. So this is the correct choice. D) running, breathing, watching TV * This choice is wrong on so many levels. Trees which are an organism can't run, nor watch TV. So this is also wrong.

Watery material which contains many of the materials involved in cell metabolism

Answers

Final answer:

The watery material containing multiple molecules involved in cell metabolism is known as cytoplasm. Cytoplasm, a jelly-like substance that houses the cells' organelles, is the site for most metabolic reactions, including protein synthesis and glucose breakdown.

Explanation:

The watery material which contains many of the materials involved in cell metabolism is called cytoplasm. The cytoplasm is a jelly-like substance where all the cellular organelles are suspended and it plays a crucial role in a cell's life. It is within this watery material that most of the cell’s metabolic reactions occur. These reactions include protein synthesis, first steps of glucose breakdown, and many other metabolic pathways.

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Final answer:

The watery material that contains materials involved in cell metabolism is called cytoplasm.

Explanation:

The watery material which contains many of the materials involved in cell metabolism is called cytoplasm. It is the region of a cell between the plasma membrane and the nuclear envelope. The cytoplasm consists of organelles suspended in the cytosol, which is a gel-like substance. It contains various chemicals including simple sugars, amino acids, nucleic acids, fatty acids, and ions of sodium, potassium, and calcium. Many metabolic reactions, including protein synthesis, occur in the cytoplasm.

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The brain's interpretation of sensory stimuli is called

Answers

It is called perception, proprioception, or cognition.

I hope this helps!
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