6584935
Beschreibung
Mindmap von Batool Aldaher, aktualisiert more than 1 year ago
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Erstellt von Batool Aldaher
vor fast 8 Jahre
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Its all in the gene
- Metabolism
- Metabolic pathways
- glycolysis
- Citric acid
cycle
- oxidative
phosphorylation
- pentose
phosphate
pathway
- urea cycle
- fatty acid
B-oxidation
- gluconeogenesis
- glycolysis
- Metabolic pathways
- Inborn errors of
metabolism
- Inherited
metabolic
disease
- Autosomal
Recessive Genes
- Autosomal
Recessive Genes
- General
Features
- poor
feeding
- vomiting
- diarrhea
- hypotonia
- Seizures
- Lethargy
- Dehydration
- Mild to
moderate
- Severe
- Mild to
moderate
- poor
feeding
- Clinical
features
- Hypoglycemia
- Hypertonicity
- severe
metabolic
acidosis
- Myopathy
- Urine
Odor
- Cerebral
palsy
- Respiratory
distress
- Frequent
Infections
- Organomegaly
- Hypoglycemia
- Tests
- Blood test
- Urine
test
- Imaging
tests
- Blood test
- Treatment
- Dietary restriction
- Vitamins
- Enzyme
replacment
- Gene
therapy
- Organ
transplantation
- Dialysis
- Dietary suplement
- Dietary restriction
- Physical examination
- distinctive
facial
features
- measurements
- Head circumferences
- Distance between eyes
- Arms & legs length
- Head circumferences
- specialized
examinations
- Clinical finding
- distinctive
facial
features
- Galactocemia
- causes
- deficiency
of GALT
- Deficiency of
epimerase
- deficiency of
galactokinase
- deficiency
of GALT
- clinical features
- irritability
- convulasion
- lethargy
- vomiting
- abdominal
destintion
- Causes
- Fat
- Faeces
- Fetus
- Flatus
- Fluid
- Fluid
- Flatus
- Fetus
- Faeces
- Fat
- Causes
- poor
feeding
- Jaundices
- Causes
- Alcohol abuse
- liver unfection
- Liver cancer
- Gallstone
- Blood disorders
- Blood disorders
- Gallstone
- Liver cancer
- liver unfection
- Pancreatic cancer
- Alcohol abuse
- Causes
- irritability
- investigation
- prenatal
test
- genetic
testing
- prenatal
test
- causes
- Inherited
metabolic
disease
- Breast, cow &formula milk
- Gene
expression
- Transcription
- Translation
- Transcription
- Genetic disorders
- Chromosomal
abnormalities
- Single gene defect
- Multifactorial
problems
- Teratogenic
problems
- Chromosomal
abnormalities
- Mendel principles
- Fundamental
theory of
heredity
- Principle of
segregation
- Principle of
independent
assortment
- Exception of
Mendel's rule
- Fundamental
theory of
heredity
- Pedigree
- A chart that show
the genotypes and
phenotypes of a
certain ancestry
- A chart that show
the genotypes and
phenotypes of a
certain ancestry
- Consanguinity
- union between
individuals
related as 2nd
cousins or closer
- union between
individuals
related as 2nd
cousins or closer
Medienanhänge
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