Peter Robinson

S-Ado

1

The enzyme defect is manifested by the presence of enormously elevated concentrations of the two succinylnucleosides—succinyla- minoimidazole carbox­amide riboside (SAICAr) and succinyladeno- sine (S-Ado)—in urine and CSF and to a...

NTR: OCT: retinal hyper-reflective dots (Lab: radiology)

1

New term request OCT: retinal hyper-reflective dots (elthat_120305195729): Optical coherence tomography

NTR: THCA (trihydrocholestanoic acid) high in blood (Lab: blood chemistry)

2

New term request THCA (trihydrocholestanoic acid) high in blood (segal_070920163940): UMLS: 4229201

NTR: Pupillary response low to hydroxyamphetamine (Cranial nerves)

2

New term request Pupillary response low to hydroxyamphetamine (elthat_130225200433): Pupils

NTR: Pupillary hypersensitivity to parasympathomimetic agents (Cranial nerves)

2

New term request Pupillary hypersensitivity to parasympathomimetic agents (segal_030124170200): Methacholine; pilocarpine; pupils

NTR: Sepiapterin high in CSF (Lab: cerebrospinal fluid tests)

2

New term request Sepiapterin high in CSF (segal_150721215042): Cerebrospinal fluid UMLS: 2748714