Notes in JD YSM

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Published	10/02/2023	{{c1::Sphingosine}} is a {{c2::fatty acid}} and makes up {{c3::sphingomyelin}} with {{c4::fatty acyl CoA and phosphatidyl choline}}
Published	10/02/2023	{{c1::Sphingosine + fatty acyl-CoA}} → {{c2::Ceramide}}
Published	10/02/2023	Fatty acid nomenclature: {{c1::linolenic acid}} is also known as {{c2::omega 3}}
Published	10/02/2023	Fatty acid nomenclature: {{c1::Linoleic acid}} is also known as {{c2::omega 6}}
Published	10/02/2023	A {{c1::glycosaminoglycan}} is a {{c2::polysaccharide formed by repeated disaccharides (e.g., amino sugars, uronic sugars, galactose)}}
Published	10/02/2023	{{c1::Rhabdomyolysis}} is the breakdown of {{c2::skeletal muscle tissue}} caused by either traumatic injury (e.g., crush injury) or nontraumatic injur…
Published	10/02/2023	The {{c1::L-type}} calcium channel (also known as the {{c2::dihydropyridine channel, or DHP channel}}) is part of the high-voltage activated family of…
Published	10/02/2023	In terms of CCBs, the {{c1::dihydropyridines}} are more {{c2::vascular selective}} and the {{c1::non-dihydropyridines}} are more {{c2::myocardial sele…
Published	10/02/2023	Re: muscle cell recptors, {{c1::Nicotinic acetylcholine receptors/Nicotinic cholinergic receptors}} are {{c2::ligand-gated ion channels}} whereas {{c1…
Published	10/02/2023	{{c1::PRPP}} is {{c2::phosphoribosyl pyrophosphate}}
Published	10/02/2023	{{c1:: HGPRT}} is {{c2::Hypoxanthine-guanine phosphoribosyltransferase}}
Published	10/02/2023	{{c1::MSH2}} in mismatch repair is {{c2::MutS homolog 2}}
Published	10/02/2023	{{c1::MLH1}} is a mismatch repair gene called {{c2::mutL homolog 1}}
Published	10/02/2023	{{c1::HSP70}} is a chaperone that {{c2::assists with tertiary structure formation}}
Published	10/02/2023	{{c1::HSP90}} is a chaperone that {{c2::converts partially folded proteins into their final or near final state}}
Published	10/02/2023	Depending on the pattern, ubiquination of proteins can lead to {{c1::degradation}}, {{c2::endocytosis}}, or {{c3::histone regulation}},
Published	10/02/2023	{{c1::T4}} is also known as {{c2::thyroxine}}
Published	10/02/2023	What is the order of steps for nuclei lysis during irreversible cell injury?{{c1::pyknosis (condensation), karryohexis (fragmentation), and karyolysis…
Published	10/02/2023	{{c1::pyroptosis}} is an inflammatory cell death pathway that is induced when {{c3::intracellular bacteria::type of pathogen}} {{c2::prevent apopotosi…
Published	10/02/2023	{{c1::necroptosis}} is a cell death pathway that is induced when a {{c2::virus::type of pathogen}} prevents {{c2::apoptosis}}
Published	10/02/2023	{{c1::Sentinel cells}} is a term for cells that {{c2::play a prominent role in host defense by being always alert to sense and monitor the presence of…
Published	10/02/2023	{{c1::polyarteritis nodosa}} is a systemic necrotizing vasculitis that predominantly affects medium-sized vessels (i.e., the main visceral arteries an…
Published	10/02/2023	{{c1:: transmural}} is a descriptor for involvement of all layers of a structure in any disease or physiologic process
Published	10/02/2023	{{c2::DOPA}} stands for {{c1::dihydroxyphenylalanine}}
Published	10/02/2023	{{c1::6MP}} is also known as {{c2::azathioprine}}
Published	10/02/2023	{{c1::α-1,4-glucosidase}} is also known as {{c2::acid maltase}}
Published	10/02/2023	{{c2::ganglia}} describes a cluster of nerve cell bodies that rely on signals from the {{c1::CNS}} to send to the {{c1::periphery}}
Published	10/02/2023	{{c1::cytarabine}} is a {{c2::pyrimidine analog}} that {{c3::inhibits DNA polymerase}} and is used in the treatment of {{c4::cancers}}
Published	10/02/2023	{{c1::aneuploidy}} is a term used for a cell that has {{c2::an abnormal chromosome number}}
Published	10/02/2023	A chromosome is termed {{c1::acrocentric}} if its {{c2::centromere is not central and is instead located near the end of the chromosome}}
Published	10/02/2023	{{c1::genomic imprinting}} is the term used to describe the {{c2::silencing of either the maternal or paternal allele}} during early development so th…
Published	10/02/2023	Is the specific x chromosome (e.g., from parent 1 vs. parent 2) that is inactivated consistent across all cells?{{c1::No--randomly inactivated in each…
Published	10/02/2023	The {{c1::pseudoautosomal region}} is the region in X and Y chromosomes that allow for {{c2::X and Y recombination}}
Published	10/02/2023	{{c1::Linkage}} is the concept that alleles that are {{c2::close to each other::relative location}} will be {{c3::less likely::more or less likely}} t…
Published	10/02/2023	{{c1::Haplotype}} is a term used to define the specific combination of an individual's alleles
Published	10/02/2023	A mutation in {{c1::GARS}} causes {{c2::GMTD2/Charcot-Marie-Tooth 2D}}
Published	10/02/2023	{{c1::epiblast}} cells descend through the {{c1::primitive node/streak}} to form {{c2::endoderm and mesoderm}} during {{c3::gastrulation}}
Published	10/02/2023	During and after gastrulation, the embryo {{c3::elongates}} by {{c1::planar cell polarity}} and {{c2::convergent extension}}
Published	10/02/2023	{{c1::planar cell polarity}} describes an epithelial layers' {{c2::orientation along a longitudinal axis}}
Published	10/02/2023	{{c1::Convergent extension}} describes the process by which cells reorient themselves along an axis by simultaneously converging in one direction and …
Published	10/02/2023	The notochord develops {{c1::ventrally::ventrally or dorsally}} relative to the neural tube
Published	10/02/2023	The notochord extends {{c1::cranially::cranially or caudally}} from the epiblast
Published	10/02/2023	The notochord process fuses with the {{c1::endoderm}} then dissociates itself (becoming the NOTOCHORD) in order to generate {{c2::L to R polarity}}
Published	10/02/2023	The notochord plate contains {{c1::cilia}} which will move {{c2::clockwise}} to move fluid from the {{c3::right to the left}}
Published	10/02/2023	Mutations in {{c1::cilia}} of the notochord result in a condition called {{c2::situs inversus}}, which is ultimately due to decreased movement of the …
Published	10/02/2023	{{c1::chordoma}} is a cancer caused by remnants of the {{c2::notochord}}
Published	10/02/2023	{{c1::chordin}} is a signaling molecule that {{c2::blocks}} {{c4::BMP's}} effect on cells in the ectoderm, resulting in {{c3::neural plate}} formation
Published	10/02/2023	The two processes that generate formation of the neural tube are {{c1::convergent extension}} and {{c2::apical constriction}}
Published	10/02/2023	Two processes that push the edges of the neural plate together are {{c1::apical constriction}} and {{c2::cell crawling}}
Published	10/02/2023	The signaling molecule {{c1::sonic hedgehog}} is secreted by the {{c3::notochord}} and determines {{c2::dorsal-ventral}} orientation of the spinal cor…
Published	10/02/2023	Neural tube closure disorders are due to both {{c1::genetic}} and {{c2::environmental}} factors
Published	10/02/2023	{{c1::compound heterozygosity}} is a term used to describe when a {{c2::different pathogenic allele::same or different; pathogenic or not}} is present…
Published	10/02/2023	{{c1::hemizygosity}} is a term used to describe the {{c2::expression of only one of two alleles}}
Published	10/02/2023	What is the difference between germline/gonadal and gonosomal mosaicism?{{c1::germline is in GERM cells but NOT somatic cells--gonosomal is in both}}
Published	10/02/2023	A variant must be present in at least {{c2::1%}} of the population to be deemed a {{c1::polymorphism}}
Published	10/02/2023	Do we know what the clinical significance of most variants is?{{c1::no}}
Published	10/02/2023	A variant is termed {{c1::dominant negative}} if it {{c2::cannot}} perform its usual function AND {{c2::inhibits the normal allele}}
Published	10/02/2023	A variant is defined as a {{c1::structural}} variant if the region of DNA that is affect is over {{c2::1 kb}}
Published	10/02/2023	{{c1::Short Tandem Repeats/Microsatellites}} are 2-5 bp sequences that are repeated dozens to hundreds of times
Published	10/02/2023	A {{c1::INDEL (Small Insertion and Deletion)}} is defined as any addition or deletion of less than {{c2::1 kb}}
Published	10/02/2023	What is the main difference between short tandem repeats/microsatellites and variable number tandem repeats (VNTRs)? {{c1::VNTRS > 5 bp repeat…
Published	10/02/2023	What is the difference between an INDEL and a copy number variant (CNV)?{{c1::CNVs are large INDELs (>1 Kb)}}
Published	10/02/2023	{{c1::complex rearrangement}} describes a chromosomal mutation in which {{c2::at least two::how many?}} chromosomes rearrange after having at least {{…
Published	10/02/2023	{{c1::genetic drift}} defines variation in gene frequencies of populations due to {{c2::chance}}
Published	10/02/2023	{{c1::multifactorial inheritance}} describes how individual gene variants and {{c2::environmental factors}} can, in combination, lead to an increase i…
Published	10/02/2023	The {{c1::liability threshold}} theory states that only people whose susceptibility for a disease meets a threshold develop the disease
Published	10/02/2023	{{c1::polygenic risk scores}} are a sum of {{c2::risk alleles}} weighted by effect sizes that allow us to determine how likely an individual is to hav…
Published	10/02/2023	What are the three main caveats with GWAS?{{c1::1. Limited SNP availability within one array::technical issue}}{{c1::2. Common alleles in one populati…
Published	10/02/2023	How does the rare variant hypothesis differ from GWAS?{{c1::predicts that accumulation of uncommon variants (present in less than 1%) will drive disea…
Published	10/02/2023	{{c1::admixture}} occurs when previously isolated populations exhibiting genetic diversity mix
Published	10/02/2023	What is the number one cause of infant mortality in the US?{{c1::birth defects}}
Published	10/02/2023	Does embryonic development rely on mosaic or regulative development?{{c1::both}}
Published	10/02/2023	{{c1::mosaic}} development defines a cellular development pathway in which cells {{c2::self-determine}} their cell type
Published	10/02/2023	{{c1::regulative}} development defines a cellular development pathway in which cells {{c2::rely on signals to form}} their cell type
Published	10/02/2023	The {{c1::notochord::embryonic structure}} develops {{c2::autonomously::autonomously or non-autonomously}}, whereas the {{c1::other tissues (e.g., kid…
Published	10/02/2023	{{c1::competence}} in developmental biology indicates whether cells {{c2::can accept signals and change fate}}
Published	10/02/2023	{{c1::induction}} in developmental biology describes when cells {{c2::drive other cells' fate}}
Published	10/02/2023	{{c1::commitment}} in developmental biology describes when cells {{c2::cannot change fate}}
Published	10/02/2023	A signal is {{c1::sufficient}} if it can induce cell fate {{c2::alone}}
Published	10/02/2023	A signal is {{c1::required}} if cell fate {{c2::will not}} be induced without it
Published	10/02/2023	Would the following test for signal sufficiency or whether a signal is required?Experiment 1: apply the signal to competent cells and see if they form…
Published	10/02/2023	What is the difference between rifamycins and macrolides?{{c1::rifamycins inhibit RNA polymerase/txn; macrolides inhibit 50S subunit/tsl}}
Published	10/02/2023	Genetic disorders showing a {{c1::chromosomal}} inheritance pattern usually arise from abnormalities in chromosome {{c2::number}} or {{c2::structure}}
Published	10/02/2023	Genetic disorders showing a {{c1::polygenic}} inheritance pattern are a single phenotype controlled by {{c2::multiple}} genes
Published	10/02/2023	Genetic disorders that show {{c1::age-related penetrance/late onset}} are autosomal dominant disorders that are not present until {{c2::later}} in lif…
Published	10/02/2023	{{c1::anticipation}} describes genetic disorders that show {{c2::increased}} severity with successive generationsThis commonly occurs in {{c3::trinucl…
Published	10/02/2023	{{c1::polygenic}} inheritance is when {{c2::multiple}} genes contribute to a {{c2::single}} trait
Published	10/02/2023	When deciding who to test for genetic disorders, your best bet is always an {{c1::affected}} individual
Published	10/02/2023	Genetic testing for {{c1::primary prevention}} is testing that leads to reduced disease {{c2::incidence}}
Published	10/02/2023	Genetic testing for {{c1::secondary prevention}} is testing that leads to {{c2::early disease detection and intervention}}
Published	10/02/2023	Genetic testing for {{c1::tertiaryprevention}} is testing that leads to {{c2::personalized treatments}}
Published	10/02/2023	Genetic testing for {{c1::quaternary prevention}} is testing that leads to {{c2::improved psychosocial quality of life}}
Published	10/02/2023	In genetic testing, {{c1::incidental findings}} describes findings that were not the target of the test but have medical value for patient care
Published	10/02/2023	Is it recommended to offer predictive testing for adult-onset diseases to children?{{c1::no}}
Published	10/02/2023	{{c1::somites}} are {{c2::mesoderm}} derived structures that generate segmentation along the {{c3::cranial-caudal}} axis
Published	10/02/2023	somites are blocks of tissue that are formed in the {{c1::cranial to caudal}} direction
Published	10/02/2023	{{c1::retinoic acid}} drives segmentation of somites at the {{c2::cranial}} end whereas {{c1::FGF}} maintains mesoderm undifferentiation at the {{c2::…
Published	10/02/2023	In addition to retinoic acid and FGF, {{c1::protein concentration gradients}} are used as a {{c2::timer}} to allow for segmentation of somites
Published	10/02/2023	Differential expression of {{c1::HOX}} genes drives pattern differences between somites
Published	10/02/2023	{{c3::sonic hedgehog}} from the {{c4::notochord}} induces somite to form {{c1::sclerotome}}, which will eventually become {{c2::bone}}
Published	10/02/2023	{{c2::high wnt concentrations::how much of what}} from the {{c3::neural fold and lateral mesoderm::two needed}} induces somite to form {{c1::muscle}}
Published	10/02/2023	{{c2::low wnt concentrations::how much of what}} from the {{c4::neural fold and lateral mesoderm::two needed}} induces somite to form {{c1::dermatome}…
Published	10/02/2023	The gut tube is formed from {{c1::inward folding::describes the movement}} of the embryo
Published	10/02/2023	Where do the nerves in our GI tract come from embryonically?{{c1::neural crest cells}}
Published	10/02/2023	The heart tube forms from {{c2::endoderm::endo meso or ectoderm}} on the {{c1::crania::cranial or caudal}} side of the embryo
Published	10/02/2023	Embryos fold to move the heart tube {{c1::adjacent}} to the foregut
Published	10/02/2023	{{c1::vascular endothelial growth factor (VEGF)}} is a protein that generates {{c2::blood vessels}}
Published	10/02/2023	Larger blood vessels form through {{c1::coalescence}} of smaller blood vessels
Published	10/02/2023	In the developing embryo, the first endoderm cells that eventually form the heart become the {{c1::outflow tract}}, the next become the {{c1::ventricl…
Published	10/02/2023	What are the four situations we should consider a genetics consult?1. When we see a {{c1::rare}} or {{c1::early-onset}} cancer2. When a child is {{c1:…
Published	10/02/2023	{{c1::FMN}} stands for {{c2::flavin mononucleotide}} and is a derivative of {{c3::riboflavin}}
Published	10/02/2023	{{c1::ataxia}} is a loss of {{c2::coordination}}
Published	10/02/2023	{{c1::telangiectasia}} is the {{c2::widening}} of small blood vessels on the {{c3::skin}}, resulting in a {{c4::spider-web}} appearance
Published	10/02/2023	{{c1::22q11}} is also known as {{c2::velocradiofacial syndrome}} and {{c3::DiGeorge syndrome}}
Published	10/02/2023	22q11 is inherited in an {{c1::autosomal dominant}} fashion
Published	10/02/2023	The major clinical characteristics for 22q11 deletrion syndrome are {{c1::cardiac malformation, especially conotruncal defects}}
Published	10/02/2023	About a quarter of 22q11 deletion sydnrome have the mental health disorder {{c1::schizophrenia }}
Published	10/02/2023	The acronym for remembering the 22q11 deletion syndrome symptoms is CATCH22C{{c1::ardiac}}A{{c1::bnormal faces}}T{{c1::hymic hypoplasia}}C{{c1::lefts}…
Published	10/02/2023	{{c1::Noonan syndrome}} is one of the most common disorders with congenital heart defects
Published	10/02/2023	Genes responsible for Noonan syndrome effect the {{c1::RAS/MAPK pathway}} and is {{c2::autosomal dominant}}
Published	10/02/2023	Distinct physical features of Noonan syndrome include down {{c1::slanting palperal fissures}}, {{c1::low set ears}}, {{c1::broad webbed neck}}, {{c1::…
Published	10/02/2023	about 20-30% of individuals with Noonan syndrome develop {{c1::cardiomyopathy}}
Published	10/02/2023	{{c1::Cystic fibrosis}} is the most common life-limiting autosomal recessive disorder
Published	10/02/2023	individuals with Noonan syndrome typically have {{c1::normal}} IQ
Published	10/02/2023	You are called for a consult with a baby with swollen feet and hands, short height, and pulmonic stenosis. the likely diagnosis is {{c1::noonan syndro…
Published	10/02/2023	The six 6s that define noonan syndrom are the 6C's what are they {{c1::The 6 C'sCongenital facial abnormalities (Downslating palpebral fissures +…
Published	10/02/2023	HEXA disorders have greatest prevalence in {{c1::Anshkenzi}} extraction
Published	10/02/2023	Children born with Duchenee muscular dystrophy have an approx 30% chance of having a {{c1::spontaneous mutation}} and about 70% {{c1::chance of inheri…
Published	10/02/2023	the current treatment for duchenne muscular dystrophy is {{c1::corticosteroid therapy}}
Published	10/02/2023	A common example of a multifactorial trait is {{c1::cleft palate}}
Published	10/02/2023	{{c1::Sensitivity}} is Fraction of affecteds who screen positive
Published	10/02/2023	{{c1::Specificity}} is Fraction of unaffecteds who screen negative
Published	10/02/2023	{{c1::Positive Predictive Value (PPV)}} is Fraction of screen+ who are affected
Published	10/02/2023	the equation for positive predictive value is {{c1::TP/(TP+FP)}}
Published	10/02/2023	{{c4::Phenylketonuria (PKU)}} is diagnosed with elevated {{c1::phenyalanine}}, low {{c2::tyrosine}}, and normal {{c3::bipoterin or urine pterins …
Published	10/02/2023	Phe and tyrosine for diagnostics are measured using {{c1::MS/MS}}
Published	10/02/2023	Deficiency of OTC manifests in elevated {{c1::ammonia (hyperammonemia), >1,000 mg/dL (normal 15-45)}}, elev. {{c2::ornithine}}, low {{c3::citrullin…
Published	10/02/2023	The primary test for cystic fibrosis is {{c1::immunoreactive trypsinogen (IRT)}} from dried blood spot
Published	10/02/2023	An important and new treatment for cystic fibrosis is {{c1::ivacaftor for G551D}}
Published	10/02/2023	{{c2::RUSP metabolic disorders}} are detected through changes in blood levels of {{c1::specific MS/MS analytes}}
Published	10/02/2023	{{c1::Glutaric acidemia type 1 (GA1)}} is a disease with a {{c2::high false positive}} rate of > 95% at a ratio of 29 infants without the disorder …
Published	10/02/2023	3 diseases that MS/MS cannot identify due to high false positives or insensitivity are: {{c1::Methylmalonic academia (MMA), Very long-chain …
Published	10/02/2023	{{c1::Random Forest}} reduced the number of false-positives by integrative analysis of the entire metabolic profile in newborn screening
Published	10/02/2023	{{c1::False-positive}} screens are a central challenge in newborn screening
Published	10/02/2023	The process for new born screening is as follows:{{c1::1. screening2. hospital perform confirmatory testing3. report to NBS program(see slide for spec…
Published	10/02/2023	{{c2::sensitivity (SN)}} + {{c1::FN}} =1
Published	10/02/2023	{{c2::specificity}} + {{c1::false positive}} = 1
Published	10/02/2023	In chromosomes the {{c1::p}} arm is the short arm structure and the {{c1::q}} arm is the long arm structure
Published	10/02/2023	{{c1::Chromosome banding}} was developed to facilitate the correct identification of individual chromosomes
Published	10/02/2023	Xp22.3 describe the cytogeneic location on this chromosome {{c1::(see slide)}}
Published	10/02/2023	{{c1::Unbalanced karyotype}} is when there are net gains or losses in genetic material
Published	10/02/2023	There are 5 acrocentric chromosomes in the human genome: {{c1::13, 14, 15, 21, and 22.}}
Published	10/02/2023	{{c1::Isodisomy}} is a uniparental disomy with two identical chromosomes from one parent and {{c1::Heterodisomy}} is a  two different chromosomes…
Published	10/02/2023	What is the major consequence in genetic insertions {{c1:: Abnormal segregation of chromosomes during meiosis due to abnormal pair of chromosomes…
Published	10/02/2023	{{c1::Deletions}} involve loss of a chromosome segment, resulting in chromosome imbalance. The individual exhibits {{c2::partial monosomy}}
Published	10/02/2023	A person with 46 chromosomes carrying an isochromosome has a single copy of the genetic material of one arm {{c1::(partial monosomy)}} and three copie…
Published	10/02/2023	In balanced (recipricol) translocations:1) {{c1::No}} material is lost in the process 2) The breaks {{c1::do not}} occur within a gene such that the f…
Published	10/02/2023	How can Balanced Translocations be detrimental?{{c1::Can produce unbalanced gametes: Infertility and Abnormal offspring due to aneuploidy}}
Published	10/02/2023	{{c1::Paracentric}} is an inversion where both breaks occur in one arm (the centromere is not involved)
Published	10/02/2023	{{c1::Pericentric}} is an inversion there is a break in each arm (the centromere is involved)
Published	10/02/2023	Both {{c1::translocations}} and {{c2::inversions}} are chromosomal abnormality which leads to reduced fertility in both males and females
Published	10/02/2023	Pairing between homologues during meiosis where one chromosome is inverted requires {{c1::formation of a loop}}
Published	10/02/2023	If the inversion does not include the centromere (paracentric inversion), {{c1::dicentric}} and {{c1::acentric}} chromosomes result from meiosis. Thes…
Published	10/02/2023	A {{c1::pericentric}} inversion can lead to the production of unbalanced gametes with both duplication and deficiency of chromosome segments
Published	10/02/2023	When is fish useful: 1. Changes in the {{c1::number}} of chromosomes 2. {{c1::Large (>500 Kb-2 Mb)}} insertions or deletions, and translo…
Published	10/02/2023	FISH will not detect:1. {{c1::Small (<500 kb)}} structural abnormalities2. {{c1::Inversion}} 3. {{c1::Small (e.g., INDELS and SNPs)}} seq…
Published	10/02/2023	in array comparative genomic hybridization, the {{c1::green}} label means there is an {{c2::amplification}} of the gene in the patient group but if it…
Published	10/02/2023	In oligo array you will see:1. Changes in the {{c1::number}} of chromosomes2. Relatively {{c1::small (as small as 1Kb)}} insertions or deletions 3 ({{…
Published	10/02/2023	What is an oligo array NOT detect:1. {{c1::Balanced}} structural abnormalities2. {{c1::Inversion}}3. {{c1::Small}} sequence variants like {{c1::(INDEL…
Published	10/02/2023	SNP + Oligo array will detect:1. Changes in the {{c1::number}} of chromosomes 2. Relatively {{c1::small (as small as 1Kb) insertions or deletions&nbsp…
Published	10/02/2023	SNP + Oligo Array Will NOT detect: 1. {{c1::Balanced}} structural abnormalities2. {{c1::Inversion }}3. {{c1::Very small sequence variants (except…
Published	10/02/2023	A {{c2::musty}} urine order may be diagnosed as {{c1::classic PKU}}
Published	10/02/2023	A {{c2::cabbage}} like urine odor may be classified as which disease {{c1::tyrosinemia}}
Published	10/02/2023	A {{c2::fish market}} like urine odor may be classified as {{c1::trimethylaminura}}
Published	10/02/2023	{{c2::Black/brown}} urine color may signify {{c1::alkaptonuria}}
Published	10/02/2023	A {{c2::brown}} urine color may signify {{c1::myoglobinura}}
Published	10/02/2023	{{c1::Methylmalonic aciduria/acidemia's}} clinical presentaion is with {{c2::metabolic acidosis with anion gap}} and elevated {{c3::methylmalonic acid…
Published	10/02/2023	{{c2::methylmalonic aciduria}} is marked by a deficiency in the enzyme {{c1::methylmalonyl CoA mutase}}
Status	Last Update	Fields