Canavan disease Study guides, Class notes & Summaries

Nelson Pediatrics Review(MCQs) 19 Edition 1. Which of the following statements regarding foster care is true? □A permanency plan must be made for a child in foster care no later than 12 mo from the child's entry into care □A minority of children in foster care have a history of abuse or neglect □The mission of foster care is to safely care for children while providing services to families to promote reunification □Most (>70%) of children in foster care are reunited with their fa...

Angelman syndrome - CORRECT ANSWER Deletion of normally active maternal allele. Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Canavan disease - CORRECT ANSWER autosomal recessive, chromosome 17 enzyme aspartoacylase hypotonia, poor head control, GE reflux of poor weight gain, demyelination, progressive leukodstrophy, and death in 1st decade coeliac disease - CORRECT ANSWER protein gluten is not properly broken down cystic fibrosis - CORRECT ANSWER Hered...

Angelman syndrome - correct answer Deletion of normally active maternal allele. Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Canavan disease - correct answer autosomal recessive, chromosome 17 enzyme aspartoacylase hypotonia, poor head control, GE reflux of poor weight gain, demyelination, progressive leukodstrophy, and death in 1st decade coeliac disease - correct answer protein gluten is not properly broken down cystic fibrosis - correct answer...

A boy walks in to your clinic. His father has similar features. Both father and son are around 4 ft and complain of never finding a hat that fits. Physician confirms boiling of the legs and frontal bossing. Genetic testing shows mutation in the FGF3 gene. What disease? correct answers Achondroplasia A girl comes to clinic after a cardiac evaluation. She was born with a VSD and radiographic images show butterfly shaped vertabrae. Upon further examination, you notice her skin looks jaundiced. W...

HOSA Pathophysiology Study Guide with complete solutions Angelman syndrome - answerDeletion of normally active maternal allele. Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Canavan disease - answerautosomal recessive, chromosome 17 enzyme aspartoacylase hypotonia, poor head control, GE reflux of poor weight gain, demyelination, progressive leukodstrophy, and death in 1st decade coeliac disease - answerprotein gluten is not properly broken down cystic f...

Nelson Pediatrics Review(MCQs)19ed 1. Which of the following statements regarding foster care is true? □A permanency plan must be made for a child in foster care no later than 12 mo from the child's entry into care □A minority of children in foster care have a history of abuse or neglect □The mission of foster care is to safely care for children while providing services to families to promote reunification □Most (>70%) of children in foster care are reunited with their families ...

HOSA Pathophysiology exam guide version 2023 with all updates Angelman syndrome - - Deletion of normally active maternal allele. Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Canavan disease - - autosomal recessive, chromosome 17 enzyme aspartoacylase hypotonia, poor head control, GE reflux of poor weight gain, demyelination, progressive leukodstrophy, and death in 1st decade coeliac disease - - protein gluten is not properly broken down cystic fibros...

Nelson Pediatrics Review(MCQs)19ed 1. Which of the following statements regarding foster care is true? □A permanency plan must be made for a child in foster care no later than 12 mo from the child's entry into care □A minority of children in foster care have a history of abuse or neglect □The mission of foster care is to safely care for children while providing services to families to promote reunification □Most (>70%) of children in foster care are reunited with their families ■A ...

HOSA Pathophysiology Practice Questions And Correct Answers Angelman syndrome - CORRECT ANSWERS Deletion of normally active maternal allele. Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Canavan disease - CORRECT ANSWERS autosomal recessive, chromosome 17 enzyme aspartoacylase hypotonia, poor head control, GE reflux of poor weight gain, demyelination, progressive leukodstrophy, and death in 1st decade coeliac disease - CORRECT ...

HOSA Pathophysiology Already Passed Angelman syndrome - Deletion of normally active maternal allele. Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Canavan disease - autosomal recessive, chromosome 17 enzyme aspartoacylase hypotonia, poor head control, GE reflux of poor weight gain, demyelination, progressive leukodstrophy, and death in 1st decade coeliac disease - protein gluten is not properly broken down cystic fibrosis - Hereditary condi...