Inborn errors of metabolism
CR Ferreira, CDM van Karnebeek - Handbook of clinical neurology, 2019 - Elsevier
Inborn errors of metabolism, also known as inherited metabolic diseases, constitute an
important group of conditions presenting with neurologic signs in newborns. They are …
important group of conditions presenting with neurologic signs in newborns. They are …
Magnetic resonance spectroscopy in pediatric neuroradiology: clinical and research applications
A Panigrahy, MD Nelson, S Blüml - Pediatric radiology, 2010 - Springer
Magnetic resonance spectroscopy (MRS) offers a unique, noninvasive approach to assess
pediatric neurological abnormalities at microscopic levels by quantifying cellular …
pediatric neurological abnormalities at microscopic levels by quantifying cellular …
Biochemical correlates of neuropsychiatric illness in maple syrup urine disease
Maple syrup urine disease (MSUD) is an inherited disorder of branched chain amino acid
metabolism presenting with neonatal encephalopathy, episodic metabolic decompensation …
metabolism presenting with neonatal encephalopathy, episodic metabolic decompensation …
Diffusion-weighted MR imaging in leukodystrophies
Z Patay - European radiology, 2005 - Springer
Leukodystrophies are genetically determined metabolic diseases, in which the underlying
biochemical abnormality interferes with the normal build-up and/or maintenance of myelin …
biochemical abnormality interferes with the normal build-up and/or maintenance of myelin …
[HTML][HTML] MR spectroscopy in pediatric neuroradiology
R Liserre, L Pinelli, R Gasparotti - Translational pediatrics, 2021 - ncbi.nlm.nih.gov
Magnetic resonance spectroscopy (MRS), being able to identify and measure some brain
components (metabolites) in pathologic lesions and in normal-appearing tissue, offers a …
components (metabolites) in pathologic lesions and in normal-appearing tissue, offers a …
Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease
S Schönberger, B Schweiger, B Schwahn… - Molecular genetics and …, 2004 - Elsevier
Maple syrup urine disease (MSUD) is associated with increased branched-chain amino
acids (BCAA), their keto acids (BCKA), and acute or chronic encephalopathy. Aim of …
acids (BCAA), their keto acids (BCKA), and acute or chronic encephalopathy. Aim of …
Treatable newborn and infant seizures due to inborn errors of metabolism
J Campistol, B Plecko - Epileptic Disorders, 2015 - Wiley Online Library
About 25% of seizures in the neonatal period have causes other than asphyxia, ischaemia
or intracranial bleeding. Among these are primary genetic epileptic encephalopathies with …
or intracranial bleeding. Among these are primary genetic epileptic encephalopathies with …
MR imaging of the neonatal brain
AJ Barkovich - Neuroimaging Clinics, 2006 - neuroimaging.theclinics.com
Methods At the University of California at San Francisco (UCSF), all studies are performed
using a custom-built MR-compatible neonatal incubator and a high-sensitivity specialized …
using a custom-built MR-compatible neonatal incubator and a high-sensitivity specialized …
Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap
SH Mudd, N Braverman, M Pomper, K Tezcan… - Molecular genetics and …, 2003 - Elsevier
Studies were carried out to identify the cause of combined severe hypermethioninemia and
moderate hyperhomocysteinemia in a cluster of 10 infants ascertained between 1999 and …
moderate hyperhomocysteinemia in a cluster of 10 infants ascertained between 1999 and …
Cranial ultrasound in metabolic disorders presenting in the neonatal period: characteristic features and comparison with MR imaging
LM Leijser, LS De Vries… - American Journal …, 2007 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: Brain imaging is an integral part of the diagnostic work-up
for metabolic disorders, and the bedside availability of cranial ultrasonography (cUS) allows …
for metabolic disorders, and the bedside availability of cranial ultrasonography (cUS) allows …