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1
Evidence Report: Genetic and metabolic testing on children with global developmental delay Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Evidence Report: Genetic and metabolic testing on children with global developmental delay Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
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Evidence Report: Genetic and metabolic testing on children with global developmental delay Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

MICHELSON, D. J ; SHEVELL, M. I ; SHERR, E. H ; MOESCHLER, J. B ; GROPMAN, A. L ; ASHWAL, S

Neurology, 2011-10, Vol.77 (17), p.1629-1635 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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2
Neurological implications of urea cycle disorders
Neurological implications of urea cycle disorders
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Neurological implications of urea cycle disorders

Gropman, A. L ; Summar, M ; Leonard, J. V

Journal of inherited metabolic disease, 2007-11, Vol.30 (6), p.865-879 [Periódico revisado por pares]

Dordrecht: Dordrecht : Springer Netherlands

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3
Atp7b-dependent choroid plexus dysfunction causes transient copper deficit and metabolic changes in the developing mouse brain
Atp7b-dependent choroid plexus dysfunction causes transient copper deficit and metabolic changes in the developing mouse brain
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Atp7b-dependent choroid plexus dysfunction causes transient copper deficit and metabolic changes in the developing mouse brain

Washington-Hughes, Clorissa L ; Roy, Shubhrajit ; Seneviratne, Herana Kamal ; Karuppagounder, Senthilkumar S ; Morel, Yulemni ; Jones, Jace W ; Zak, Alex ; Xiao, Tong ; Boronina, Tatiana N ; Cole, Robert N ; Bumpus, Namandjé N ; Chang, Christopher J ; Dawson, Ted M ; Lutsenko, Svetlana Gropman, Andrea

PLoS genetics, 2023-01, Vol.19 (1), p.e1010558 [Periódico revisado por pares]

United States: Public Library of Science

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4
MRI characteristics of globus pallidus infarcts in isolated methylmalonic acidemia
MRI characteristics of globus pallidus infarcts in isolated methylmalonic acidemia
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MRI characteristics of globus pallidus infarcts in isolated methylmalonic acidemia

Baker, E H ; Sloan, J L ; Hauser, N S ; Gropman, A L ; Adams, D R ; Toro, C ; Manoli, I ; Venditti, C P

American journal of neuroradiology : AJNR, 2015-01, Vol.36 (1), p.194-201 [Periódico revisado por pares]

United States: American Society of Neuroradiology

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5
Incidence of sex chromosome aneuploidy in a prenatal population: 27‐year longitudinal study in Northern Italy
Incidence of sex chromosome aneuploidy in a prenatal population: 27‐year longitudinal study in Northern Italy
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Incidence of sex chromosome aneuploidy in a prenatal population: 27‐year longitudinal study in Northern Italy

Samango‐Sprouse, C. A. ; Grati, F. R. ; Brooks, M. ; Hamzik, M. P. ; Khaksari, K. ; Gropman, A. ; Taylor, A. ; Malvestiti, F. ; Grimi, B. ; Liuti, R. ; Milani, S. ; Chinetti, S. ; Trotta, A. ; Agrati, C. ; Repetti, E. ; Martin, K. A.

Ultrasound in obstetrics & gynecology, 2023-08, Vol.62 (2), p.266-272 [Periódico revisado por pares]

Chichester, UK: John Wiley & Sons, Ltd

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6
Cortical venous disease severity in MELAS syndrome correlates with brain lesion development
Cortical venous disease severity in MELAS syndrome correlates with brain lesion development
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Cortical venous disease severity in MELAS syndrome correlates with brain lesion development

Whitehead, M. T. ; Wien, M. ; Lee, B. ; Bass, N. ; Gropman, A.

Neuroradiology, 2017-08, Vol.59 (8), p.813-818 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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7
Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature
Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature
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Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature

Barkovich, E. ; Gropman, A. L. Suri, Mohnish

Case reports in genetics, 2020-05, Vol.2020, p.7024735-5 [Periódico revisado por pares]

United States: Hindawi

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8
Diffusion Tensor Imaging Detects Areas of Abnormal White Matter Microstructure in Patients with Partial Ornithine Transcarbamylase Deficiency
Diffusion Tensor Imaging Detects Areas of Abnormal White Matter Microstructure in Patients with Partial Ornithine Transcarbamylase Deficiency
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Diffusion Tensor Imaging Detects Areas of Abnormal White Matter Microstructure in Patients with Partial Ornithine Transcarbamylase Deficiency

GROPMAN, A. L ; GERTZ, B ; SHATTUCK, K ; KAHN, I. L ; SELTZER, R ; KRIVITSKY, L ; VAN METER, J

American journal of neuroradiology : AJNR, 2010-10, Vol.31 (9), p.1719-1723 [Periódico revisado por pares]

Oak Brook, IL: American Society of Neuroradiology

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9
Clinical spectrum of succinic semialdehyde dehydrogenase deficiency
Clinical spectrum of succinic semialdehyde dehydrogenase deficiency
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Clinical spectrum of succinic semialdehyde dehydrogenase deficiency

PEARL, P. L ; GIBSON, K. M ; TUCHMAN, M ; ACOSTA, M. T ; VEZINA, L. G ; THEODORE, W. H ; ROGAWSKI, M. A ; NOVOTNY, E. J ; GROPMAN, A ; CONRY, J. A ; BERRY, G. T

Neurology, 2003-05, Vol.60 (9), p.1413-1417 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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10
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome
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Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome

Sparks, S. E. ; Wassif, C. A. ; Goodwin, H. ; Conley, S. K. ; Lanham, D. C. ; Kratz, L. E. ; Hyland, K. ; Gropman, A. ; Tierney, E. ; Porter, F. D.

Journal of inherited metabolic disease, 2014-05, Vol.37 (3), p.415-420 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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