Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

Neurometabolic disorders are markedly heterogeneous, both clinically and genetically, and are characterized by variable neurological dysfunction accompanied by suggestive neuroimaging or biochemical abnormalities. Despite early specialist input, delays in diagnosis and appropriate treatment initiati...

Cur síos iomlán

Sonraí bibleagrafaíochta
Príomhchruthaitheoirí:	Reid, E, Papandreou, A, Drury, S, Boustred, C, Yue, W, Wedatilake, Y, Beesley, C, Jacques, T, Anderson, G, Abulhoul, L, Broomfield, A, Cleary, M, Grunewald, S, Varadkar, S, Lench, N, Rahman, S, Gissen, P, Clayton, P, Mills, P
Formáid:	Journal article
Teanga:	English
Foilsithe / Cruthaithe:	Oxford University Press 2016

Míreanna comhchosúla

Insights into neurometabolic diseases
de réir: Souravh Bais, et al.
Foilsithe / Cruthaithe: (2024-03-01)

Advances in neurometabolic therapy
de réir: V. V. Zakharov, et al.
Foilsithe / Cruthaithe: (2019-11-01)

Microcephaly in Neurometabolic Diseases
de réir: Wiktoria Kempińska, et al.
Foilsithe / Cruthaithe: (2022-01-01)

Ataxia in Neurometabolic Disorders
de réir: Konrad Kaminiów, et al.
Foilsithe / Cruthaithe: (2022-12-01)

Editorial: Imaging of neurometabolism
de réir: Wenbin Zheng, et al.
Foilsithe / Cruthaithe: (2023-09-01)

Neurometabolic timecourse of healthy aging
de réir: Tao Gong, et al.
Foilsithe / Cruthaithe: (2022-12-01)

Neurometabolic Therapy for Parkinson's Disease
de réir: N. G. Zhukova, et al.
Foilsithe / Cruthaithe: (2023-07-01)

Neurometabolic Causes of Infantile Spasms
de réir: J Gordon Millichap, et al.
Foilsithe / Cruthaithe: (2014-10-01)

Neurometabolic Therapy in Patients with Encephalopathy Associated with COVID-19
de réir: P. V. Dunts, et al.
Foilsithe / Cruthaithe: (2022-01-01)

The Neurometabolic Function of the Dopamine–Aminotransferase System
de réir: Sergey A. Apryatin
Foilsithe / Cruthaithe: (2025-01-01)

Editorial: Movement disorders in neurometabolic conditions
de réir: Divyani Garg, et al.
Foilsithe / Cruthaithe: (2024-03-01)

Prevalence of neurometabolic diseases in Saudi Arabia
de réir: Mohammed Almuqbil
Foilsithe / Cruthaithe: (2020-06-01)

Neurometabolic underpinning of the intergenerational transmission of prosociality
de réir: Naohiro Okada, et al.
Foilsithe / Cruthaithe: (2020-09-01)

Neurometabolic indicators of mitochondrial dysfunction in repetitive mild traumatic brain injury
de réir: Susan Kim‡, et al.
Foilsithe / Cruthaithe: (2017-10-01)

Neurometabolic indicators of mitochondrial dysfunction in repetitive mild traumatic brain injury
de réir: Susan Kim, et al.
Foilsithe / Cruthaithe: (2017-11-01)

Advantages and pitfalls of clinical application of sugammadex
de réir: Hyung Young Lee, et al.
Foilsithe / Cruthaithe: (2020-07-01)

Central Role of the EGF Receptor in Neurometabolic Aging
de réir: Sana Siddiqui, et al.
Foilsithe / Cruthaithe: (2012-01-01)

Neuroimaging of Basal Ganglia in Neurometabolic Diseases in Children
de réir: Justyna Paprocka, et al.
Foilsithe / Cruthaithe: (2020-11-01)

Approach to Neurological Channelopathies and Neurometabolic Disorders in Newborns
de réir: Inn-Chi Lee
Foilsithe / Cruthaithe: (2021-11-01)

Clinical Advances in Neuromuscular Diseases: Neurometabolic Disorders
de réir: Corrado Angelini, et al.
Foilsithe / Cruthaithe: (2023-07-01)

Stroke-like Episodes in Inherited Neurometabolic Disorders
de réir: Natalia Będkowska, et al.
Foilsithe / Cruthaithe: (2022-09-01)

Surgical treatment of movement disorders in neurometabolic conditions
de réir: Alonso Zea Vera, et al.
Foilsithe / Cruthaithe: (2023-06-01)

Neuromicrobiology, an emerging neurometabolic facet of the gut microbiome?
de réir: Saba Miri, et al.
Foilsithe / Cruthaithe: (2023-01-01)

The Most Common Treatable Neurometabolic Epilepsies in Children
de réir: Parvaneh Karimzadeh, et al.
Foilsithe / Cruthaithe: (2018-06-01)

Eye motor manifestations in children with neurometabolic disorders
de réir: Hsin-Pei Wang, et al.
Foilsithe / Cruthaithe: (2022-04-01)

Direct-to-consumer genetic testing: advantages and pitfalls
de réir: Bermseok Oh
Foilsithe / Cruthaithe: (2019-09-01)

Crowd-sourcing the COVID data: Advantages and pitfalls
de réir: Sandeep Patel, et al.
Foilsithe / Cruthaithe: (2022-02-01)

MOOCs in Higher Education: Advantages and Pitfalls for Instructors
de réir: Ulyana Zakharova, et al.
Foilsithe / Cruthaithe: (2019-09-01)

Corrigendum: Advantages and pitfalls of clinical application of sugammadex
de réir: Hyung Young Lee, et al.
Foilsithe / Cruthaithe: (2022-07-01)

Randomized controlled trials: advantages and pitfalls when studying causality
de réir: Diego Caruso, et al.
Foilsithe / Cruthaithe: (2024-03-01)

Diagnostic workup and management of patients with suspected Niemann-Pick type C disease
de réir: Apostolos Papandreou, et al.
Foilsithe / Cruthaithe: (2016-05-01)

Determination of neurometabolism in patients with mild and moderate cognitive impairments
de réir: N. N. Mikheev, et al.
Foilsithe / Cruthaithe: (2016-02-01)

Gene therapy for rare haematological and neurometabolic paediatric diseases
de réir: Vera Gallo, et al.
Foilsithe / Cruthaithe: (2024-09-01)

Neurometabolic alterations in children and adolescents with functional neurological disorder
de réir: Molly Charney, et al.
Foilsithe / Cruthaithe: (2024-01-01)

Diagnosis Of Inherited Neurometabolic Disorders : A Biochemical Approach
de réir: Christopher R, et al.
Foilsithe / Cruthaithe: (1999-01-01)

Age-Dependent Impairment of Neurovascular and Neurometabolic Coupling in the Hippocampus
de réir: Cátia F. Lourenço, et al.
Foilsithe / Cruthaithe: (2018-07-01)

Osteoporotic Animal Models of Bone Healing: Advantages and Pitfalls
de réir: Elena Calciolari, et al.
Foilsithe / Cruthaithe: (2017-09-01)

Advantages and pitfalls of selective cardioneuroablation targeting the atrioventricular node
de réir: Dan Wichterle, MD, PhD
Foilsithe / Cruthaithe: (2023-08-01)

Advantages and pitfalls of South Africa-Angola strategic alliances
de réir: A. J. Vogel, et al.
Foilsithe / Cruthaithe: (2010-12-01)

An analysis framework for the integration of broadband NIRS and EEG to assess neurovascular and neurometabolic coupling
de réir: P. Pinti, et al.
Foilsithe / Cruthaithe: (2021-02-01)