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Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBC
Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBC
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Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBC

Walker, Helen ; Pitkanen, Mervi ; Rahman, Yusof ; Barrington, Sally F.

JIMD Reports, Volume 40, 2018, Vol.40, p.97-103 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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2
Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics
Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics
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Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics

Waisbren, S. E. ; Rohr, F. ; Anastasoaie, V. ; Brown, M. ; Harris, D. ; Ozonoff, A. ; Petrides, S. ; Wessel, A. ; Levy, H. L.

JIMD Reports, Volume 21, 2015, Vol.21, p.23-33 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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3
Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in Phenylketonuria
Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in Phenylketonuria
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Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in Phenylketonuria

Waisbren, Susan E. ; Prabhu, Sanjay P. ; Greenstein, Patricia ; Petty, Carter ; Schomer, Donald ; Anastasoaie, Vera ; Charette, Kalin ; Rodriguez, Daniel ; Merugumala, Sai ; Lin, Alexander P.

JIMD Reports, Volume 34, 2017, Vol.34, p.77-86 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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4
Parkinsonism in Phenylketonuria: A Consequence of Dopamine Depletion?
Parkinsonism in Phenylketonuria: A Consequence of Dopamine Depletion?
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Parkinsonism in Phenylketonuria: A Consequence of Dopamine Depletion?

Velema, Marieke ; Boot, Erik ; Engelen, Marc ; Hollak, Carla

JIMD Reports, Volume 20, 2015, Vol.20, p.35-38 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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5
Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability
Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability
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Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability

Blumkin, Lubov ; Leshinsky-Silver, Esther ; Zerem, Ayelet ; Yosovich, Keren ; Lerman-Sagie, Tally ; Lev, Dorit

JIMD Reports - Volume 12, 2014, Vol.12, p.103-107 [Periódico revisado por pares]

Cham: Springer International Publishing

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6
Assessment of Non‐Motor Features of Parkinson's Disease: Scales and Rating Tools
Assessment of Non‐Motor Features of Parkinson's Disease: Scales and Rating Tools
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Assessment of Non‐Motor Features of Parkinson's Disease: Scales and Rating Tools

Goetz, Christopher G ; Sampaio, Cristina Lang, Anthony E ; Stocchi, Fabrizio ; Olanow, C. Warren

Parkinson's Disease, 2011, p.111-125

Oxford, UK: Blackwell Publishing Ltd

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7
Clinical Features of Dementia Associated with Parkinson's Disease and Dementia with Lewy Bodies
Clinical Features of Dementia Associated with Parkinson's Disease and Dementia with Lewy Bodies
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Clinical Features of Dementia Associated with Parkinson's Disease and Dementia with Lewy Bodies

Burn, David J Lang, Anthony E ; Stocchi, Fabrizio ; Olanow, C. Warren

Parkinson's Disease, 2011, p.134-144

Oxford, UK: Blackwell Publishing Ltd

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