Imaging of Inherited Metabolic and Endocrine Disorders.

[1]  Wang-Tso Lee,et al.  Editorial: Pediatric Neurometabolic Disorders , 2021, Frontiers in Neurology.

[2]  F. D’Arco,et al.  Clinico-radiological phenotyping and diagnostic pathways in childhood neurometabolic disorders—a practical introductory guide , 2021, Translational pediatrics.

[3]  C. Duan,et al.  Brain magnetic resonance imaging findings and radiologic review of maple syrup urine disease: Report of three cases , 2021, World journal of clinical cases.

[4]  A. McKinney,et al.  Urea Cycle Disorders: A Neuroimaging Pattern Approach Using Diffusion and FLAIR MRI , 2020, Journal of neuroimaging : official journal of the American Society of Neuroimaging.

[5]  Dylan Mordaunt,et al.  Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism , 2020, International journal of molecular sciences.

[6]  D. Cheillan.  Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation. , 2020, Advances in experimental medicine and biology.

[7]  Yi Ting Lim,et al.  Neuroimaging Spectrum of Inherited Neurotransmitter Disorders , 2019, Neuropediatrics.

[8]  F. Lamari,et al.  Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians , 2019, Journal of inherited metabolic disease.

[9]  S. Yoganathan,et al.  Revisiting magnetic resonance imaging pattern of Krabbe disease – Lessons from an Indian cohort , 2019, Journal of clinical imaging science.

[10]  N. Stence,et al.  Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype , 2019, Journal of inherited metabolic disease.

[11]  Matthew J. Nichols,et al.  Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months , 2019, Orphanet Journal of Rare Diseases.

[12]  A. Siddiqui,et al.  Neurometabolic Disorders of the Newborn , 2018, Topics in magnetic resonance imaging : TMRI.

[13]  T. Huisman,et al.  Toxic‐Metabolic Neurologic Disorders in Children: A Neuroimaging Review , 2018, Journal of neuroimaging : official journal of the American Society of Neuroimaging.

[14]  Jinxiang Han,et al.  Methylmalonic acidemia: Current status and research priorities. , 2018, Intractable & rare diseases research.

[15]  T. Huisman,et al.  Neuroimaging Findings of Organic Acidemias and Aminoacidopathies. , 2018, Radiographics : a review publication of the Radiological Society of North America, Inc.

[16]  J. Saudubray,et al.  Inborn Errors of Metabolism Overview: Pathophysiology, Manifestations, Evaluation, and Management. , 2018, Pediatric clinics of North America.

[17]  M. Gelb,et al.  Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease , 2018, Orphanet Journal of Rare Diseases.

[18]  D. Adamkin.  Neonatal hypoglycemia. , 2018, Seminars in fetal & neonatal medicine.

[19]  M. Likeman,et al.  Distinctive Magnetic Resonance Imaging Findings in Neonatal Nonketotic Hyperglycinemia. , 2017, Pediatric neurology.

[20]  M. Poe,et al.  Thickening of the cauda equina roots: a common finding in Krabbe disease , 2016, European Radiology.

[21]  M. Baumgartner,et al.  Quo vadis: the re-definition of “inborn metabolic diseases” , 2015, Journal of Inherited Metabolic Disease.

[22]  T. Huisman,et al.  Neurometabolic diseases of childhood , 2015, Pediatric Radiology.

[23]  A. El-Hattab.  Inborn errors of metabolism. , 2015, Clinics in perinatology.

[24]  H. Eo,et al.  Devastating metabolic brain disorders of newborns and young infants. , 2014, Radiographics : a review publication of the Radiological Society of North America, Inc.

[25]  J. Christodoulou,et al.  Mitochondrial respiratory chain disorders in childhood: insights into diagnosis and management in the new era of genomic medicine. , 2014, Biochimica et biophysica acta.

[26]  W. Tin.  Defining neonatal hypoglycaemia: a continuing debate. , 2014, Seminars in fetal & neonatal medicine.

[27]  R. Biancheri,et al.  Magnetic resonance spectroscopy in metabolic disorders. , 2013, Neuroimaging clinics of North America.

[28]  A. Fatemi,et al.  Neonatal neuroimaging findings in inborn errors of metabolism , 2013, Journal of magnetic resonance imaging : JMRI.

[29]  D. Lamireau,et al.  Signes néonatals des maladies héréditaires du métabolisme , 2012 .

[30]  Z. Patay.  MR imaging workup of inborn errors of metabolism of early postnatal onset. , 2011, Magnetic resonance imaging clinics of North America.

[31]  G. Fatterpekar,et al.  Imaging Features of Acquired Pediatric Metabolic and Toxic White Matter Disorders , 2011, Topics in magnetic resonance imaging : TMRI.

[32]  R. Carter,et al.  Early infantile Krabbe disease: results of the World-Wide Krabbe Registry. , 2011, Pediatric neurology.

[33]  K. Ganesan,et al.  Multiple Cranial Nerve Enhancement: Uncommon Imaging Finding in Early Infantile Krabbe's Disease , 2010, Journal of neuroimaging : official journal of the American Society of Neuroimaging.

[34]  R. Schiffmann,et al.  Invited Article: An MRI-based approach to the diagnosis of white matter disorders , 2009, Neurology.

[35]  A. Radmanesh,et al.  Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature , 2008, Pediatric Radiology.

[36]  C. Bönnemann,et al.  Thickening and enhancement of multiple cranial nerves in conjunction with cystic white matter lesions in early infantile Krabbe disease , 2008, Pediatric Radiology.

[37]  L. D. de Vries,et al.  Cranial Ultrasound in Metabolic Disorders Presenting in the Neonatal Period: Characteristic Features and Comparison with MR Imaging , 2007, American Journal of Neuroradiology.

[38]  A. Barkovich.  An approach to MRI of metabolic disorders in children. , 2007, Journal of neuroradiology. Journal de neuroradiologie.

[39]  F. Sedel,et al.  Clinical approach to treatable inborn metabolic diseases: An introduction , 2006, Journal of Inherited Metabolic Disease.

[40]  J. Leonard,et al.  Diagnosis and early management of inborn errors of metabolism presenting around the time of birth. , 2006, Acta paediatrica.

[41]  S. Blaser,et al.  A neuroimaging approach to inborn errors of metabolism. , 2004, Neuroimaging clinics of North America.

[42]  N. Lenn,et al.  Multiple cranial nerve enhancement in early infantile Krabbe’s disease , 2000, Neurology.

[43]  M. Sasaki,et al.  MRI and CT findings in Krabbe disease. , 1991, Pediatric neurology.