… CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and …
OBJECTIVES: A clinical review of inborn errors of metabolism (IEM) to give a practical …

… This review summarized the main clinical features and the pathophysiological mechanisms
of stroke and stroke-like episodes in inborn errors of metabolism presenting with stroke as …

… The majority of inborn errors affecting the response to drugs are caused by alterations in the
… These inborn 'errors' arc of 2 t ypes: some are very rare, to the extent that only I in 10000 to I …

… We also assessed time to diagnosis and clinical implications. … In the conclusive genetic
diagnosis group, we reported on the clinical implications for each specific patient. …

… We will review here the inborn errors affecting five human JAKs and STATs, which mostly
manifest as immunological and infectious phenotypes, although extrahematological clinical …

… clinical implications, and storage, protection, and utilization of the vast amounts of genetic
information generatedCitation271. Other concerns address the potential breach of autonomy …

… investigation for inborn errors of metabolism is warranted if clinical distinction is not possible.…
, we believe evaluation for inborn errors ofmetabolism should be performed in these infants. …

… clinical overlap between certain inborn errors. Resulting from this fact, the definite diagnosis
of inborn errors … the biochemical and genetic diagnosis of inborn errors. Techniques such as …

… glycoprotein (CDG) syndrome, inborn errors of purine and pyrimidine, inborn errors of
cholesterol and bile acid synthesis, inborn errors of intracellular triglycerides, phospholipids and …

… This makes it essential that the practicing physician be familiar with the clinical presentation
and diagnosis of these disorders. For the evaluation of a patient with a possible inborn error …