Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
Objective We aim to delineate the progression of cerebellar atrophy (the primary neuroimaging finding) in children with phosphomannomutase-deficiency (PMM2-CDG) by analyzing longitudinal MRI studies and performing cerebellar volumetric analysis and a 2D cerebellar measurement. Methods Statistical an...
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| Veröffentlicht in: | Journal of inherited metabolic disease 2017-09, Vol.40 (5), p.709-713 |
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| creator | de Diego, Víctor Martínez-Monseny, Antonio F. Muchart, Jordi Cuadras, Daniel Montero, Raquel Artuch, Rafael Pérez-Cerdá, Celia Pérez, Belén Pérez-Dueñas, Belén Poretti, Andrea Serrano, Mercedes |
| description | Objective
We aim to delineate the progression of cerebellar atrophy (the primary neuroimaging finding) in children with phosphomannomutase-deficiency (PMM2-CDG) by analyzing longitudinal MRI studies and performing cerebellar volumetric analysis and a 2D cerebellar measurement.
Methods
Statistical analysis was used to compare MRI measurements [midsagittal vermis relative diameter (MVRD) and volume] of children with PMM2-CDG and sex- and age-matched controls, and to determine the rate of progression of cerebellar atrophy at different ages.
Results
Fifty MRI studies of 33 PMM2-CDG patients were used for 2D evaluation, and 19 MRI studies were available for volumetric analysis. Results from a linear regression model showed that patients have a significantly lower MVRD and cerebellar volume compared to controls (
p
|
| doi_str_mv | 10.1007/s10545-017-0028-4 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1881268854</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1938995874</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4209-7583e5ec1126b765b3a05baca793c30c21aaedeff7a53622954a9214887abdb13</originalsourceid><addsrcrecordid>eNqFkUGP1CAYhonRuOPqD_BiSLyshyrQUuBoZnRdMxM96JlQ-nXKpoURWjfzG_zT0nQ1xsR4ICTkeV8-eBB6TslrSoh4kyjhFS8IFQUhTBbVA7ShXJQFq2v-EG0IrWghFecX6ElKt4QQJTl_jC6YLCuqBN-gH_vgj26aW-fNgL-HYR5his5i41vMdtikBCmN4CccOmwhQgPDYCI2Uwyn_oydxwbngyNgG_oQV653QxvB4zs39fjUh5TXaLwP4zyZBLiFzlkH3p7x1efDgRXb3fWrp-hRZ4YEz-73S_T1_bsv2w_F_tP1zfbtvrAVI6oQXJbAwVLK6kbUvCkN4Y2xRqjSlsQyagzkCzpheFkzpnhlFKOVlMI0bUPLS3S19p5i-DZDmvTokl2e5SHMSVMpc7WUvMroy7_Q2zDH_FWZUqVUikuxUHSlbAwpRej0KbrRxLOmRC-m9GpKZ1N6MaWXzIv75rkZof2d-KUmA2IF7twA5_836o83hx0RROUkW5Mph_wR4h9D_3Oen_RRryc</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1938995874</pqid></control><display><type>article</type><title>Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)</title><source>MEDLINE</source><source>SpringerNature Journals</source><source>Access via Wiley Online Library</source><creator>de Diego, Víctor ; Martínez-Monseny, Antonio F. ; Muchart, Jordi ; Cuadras, Daniel ; Montero, Raquel ; Artuch, Rafael ; Pérez-Cerdá, Celia ; Pérez, Belén ; Pérez-Dueñas, Belén ; Poretti, Andrea ; Serrano, Mercedes</creator><creatorcontrib>de Diego, Víctor ; Martínez-Monseny, Antonio F. ; Muchart, Jordi ; Cuadras, Daniel ; Montero, Raquel ; Artuch, Rafael ; Pérez-Cerdá, Celia ; Pérez, Belén ; Pérez-Dueñas, Belén ; Poretti, Andrea ; Serrano, Mercedes ; Collaborators of the CDG Spanish-Consortium ; Collaborators of the CDG Spanish‐Consortium</creatorcontrib><description>Objective
We aim to delineate the progression of cerebellar atrophy (the primary neuroimaging finding) in children with phosphomannomutase-deficiency (PMM2-CDG) by analyzing longitudinal MRI studies and performing cerebellar volumetric analysis and a 2D cerebellar measurement.
Methods
Statistical analysis was used to compare MRI measurements [midsagittal vermis relative diameter (MVRD) and volume] of children with PMM2-CDG and sex- and age-matched controls, and to determine the rate of progression of cerebellar atrophy at different ages.
Results
Fifty MRI studies of 33 PMM2-CDG patients were used for 2D evaluation, and 19 MRI studies were available for volumetric analysis. Results from a linear regression model showed that patients have a significantly lower MVRD and cerebellar volume compared to controls (
p
< 0.001 and
p
< 0.001 respectively). There was a significant negative correlation between age and MVRD for patients (
p
= 0.014). The rate of cerebellar atrophy measured by the loss of MVRD and cerebellar volume per year was higher at early ages (
r
= −0.578,
p
= 0.012 and
r
= −0.323,
p
= 0.48 respectively), particularly in patients under 11 years (
p
= 0.004). There was a significant positive correlation between MVRD and cerebellar volume in PMM2-CDG patients (
r
= 0.669,
p
= 0.001).
Conclusions
Our study quantifies a progression of cerebellar atrophy in PMM2-CDG patients, particularly during the first decade of life, and suggests a simple and reliable measure, the MVRD, to monitor cerebellar atrophy. Quantitative measurement of MVRD and cerebellar volume are essential for correlation with phenotype and outcome, natural follow-up, and monitoring in view of potential therapies in children with PMM2-CDG.</description><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1007/s10545-017-0028-4</identifier><identifier>PMID: 28341975</identifier><language>eng</language><publisher>Dordrecht: Springer Netherlands</publisher><subject>Atrophy ; Atrophy - metabolism ; Atrophy - pathology ; Biochemistry ; Cerebellum ; Cerebellum - metabolism ; Cerebellum - pathology ; Child ; Children ; Cohort Studies ; Disease Progression ; Female ; Human Genetics ; Humans ; Internal Medicine ; Longitudinal Studies ; Magnetic resonance imaging ; Magnetic Resonance Imaging - methods ; Male ; Medicine ; Medicine & Public Health ; Metabolic Diseases ; Neuroimaging ; Original Article ; Pediatrics ; Phosphomannomutase ; Phosphotransferases (Phosphomutases) - deficiency ; Phosphotransferases (Phosphomutases) - metabolism ; Statistical analysis ; Studies ; Volumetric analysis</subject><ispartof>Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.709-713</ispartof><rights>SSIEM 2017</rights><rights>2017 SSIEM</rights><rights>Journal of Inherited Metabolic Disease is a copyright of Springer, 2017.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4209-7583e5ec1126b765b3a05baca793c30c21aaedeff7a53622954a9214887abdb13</citedby><cites>FETCH-LOGICAL-c4209-7583e5ec1126b765b3a05baca793c30c21aaedeff7a53622954a9214887abdb13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10545-017-0028-4$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10545-017-0028-4$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,41488,42557,45574,45575,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28341975$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>de Diego, Víctor</creatorcontrib><creatorcontrib>Martínez-Monseny, Antonio F.</creatorcontrib><creatorcontrib>Muchart, Jordi</creatorcontrib><creatorcontrib>Cuadras, Daniel</creatorcontrib><creatorcontrib>Montero, Raquel</creatorcontrib><creatorcontrib>Artuch, Rafael</creatorcontrib><creatorcontrib>Pérez-Cerdá, Celia</creatorcontrib><creatorcontrib>Pérez, Belén</creatorcontrib><creatorcontrib>Pérez-Dueñas, Belén</creatorcontrib><creatorcontrib>Poretti, Andrea</creatorcontrib><creatorcontrib>Serrano, Mercedes</creatorcontrib><creatorcontrib>Collaborators of the CDG Spanish-Consortium</creatorcontrib><creatorcontrib>Collaborators of the CDG Spanish‐Consortium</creatorcontrib><title>Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><addtitle>J Inherit Metab Dis</addtitle><description>Objective
We aim to delineate the progression of cerebellar atrophy (the primary neuroimaging finding) in children with phosphomannomutase-deficiency (PMM2-CDG) by analyzing longitudinal MRI studies and performing cerebellar volumetric analysis and a 2D cerebellar measurement.
Methods
Statistical analysis was used to compare MRI measurements [midsagittal vermis relative diameter (MVRD) and volume] of children with PMM2-CDG and sex- and age-matched controls, and to determine the rate of progression of cerebellar atrophy at different ages.
Results
Fifty MRI studies of 33 PMM2-CDG patients were used for 2D evaluation, and 19 MRI studies were available for volumetric analysis. Results from a linear regression model showed that patients have a significantly lower MVRD and cerebellar volume compared to controls (
p
< 0.001 and
p
< 0.001 respectively). There was a significant negative correlation between age and MVRD for patients (
p
= 0.014). The rate of cerebellar atrophy measured by the loss of MVRD and cerebellar volume per year was higher at early ages (
r
= −0.578,
p
= 0.012 and
r
= −0.323,
p
= 0.48 respectively), particularly in patients under 11 years (
p
= 0.004). There was a significant positive correlation between MVRD and cerebellar volume in PMM2-CDG patients (
r
= 0.669,
p
= 0.001).
Conclusions
Our study quantifies a progression of cerebellar atrophy in PMM2-CDG patients, particularly during the first decade of life, and suggests a simple and reliable measure, the MVRD, to monitor cerebellar atrophy. Quantitative measurement of MVRD and cerebellar volume are essential for correlation with phenotype and outcome, natural follow-up, and monitoring in view of potential therapies in children with PMM2-CDG.</description><subject>Atrophy</subject><subject>Atrophy - metabolism</subject><subject>Atrophy - pathology</subject><subject>Biochemistry</subject><subject>Cerebellum</subject><subject>Cerebellum - metabolism</subject><subject>Cerebellum - pathology</subject><subject>Child</subject><subject>Children</subject><subject>Cohort Studies</subject><subject>Disease Progression</subject><subject>Female</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Internal Medicine</subject><subject>Longitudinal Studies</subject><subject>Magnetic resonance imaging</subject><subject>Magnetic Resonance Imaging - methods</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Metabolic Diseases</subject><subject>Neuroimaging</subject><subject>Original Article</subject><subject>Pediatrics</subject><subject>Phosphomannomutase</subject><subject>Phosphotransferases (Phosphomutases) - deficiency</subject><subject>Phosphotransferases (Phosphomutases) - metabolism</subject><subject>Statistical analysis</subject><subject>Studies</subject><subject>Volumetric analysis</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqFkUGP1CAYhonRuOPqD_BiSLyshyrQUuBoZnRdMxM96JlQ-nXKpoURWjfzG_zT0nQ1xsR4ICTkeV8-eBB6TslrSoh4kyjhFS8IFQUhTBbVA7ShXJQFq2v-EG0IrWghFecX6ElKt4QQJTl_jC6YLCuqBN-gH_vgj26aW-fNgL-HYR5his5i41vMdtikBCmN4CccOmwhQgPDYCI2Uwyn_oydxwbngyNgG_oQV653QxvB4zs39fjUh5TXaLwP4zyZBLiFzlkH3p7x1efDgRXb3fWrp-hRZ4YEz-73S_T1_bsv2w_F_tP1zfbtvrAVI6oQXJbAwVLK6kbUvCkN4Y2xRqjSlsQyagzkCzpheFkzpnhlFKOVlMI0bUPLS3S19p5i-DZDmvTokl2e5SHMSVMpc7WUvMroy7_Q2zDH_FWZUqVUikuxUHSlbAwpRej0KbrRxLOmRC-m9GpKZ1N6MaWXzIv75rkZof2d-KUmA2IF7twA5_836o83hx0RROUkW5Mph_wR4h9D_3Oen_RRryc</recordid><startdate>201709</startdate><enddate>201709</enddate><creator>de Diego, Víctor</creator><creator>Martínez-Monseny, Antonio F.</creator><creator>Muchart, Jordi</creator><creator>Cuadras, Daniel</creator><creator>Montero, Raquel</creator><creator>Artuch, Rafael</creator><creator>Pérez-Cerdá, Celia</creator><creator>Pérez, Belén</creator><creator>Pérez-Dueñas, Belén</creator><creator>Poretti, Andrea</creator><creator>Serrano, Mercedes</creator><general>Springer Netherlands</general><general>Blackwell Publishing Ltd</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QP</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>201709</creationdate><title>Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)</title><author>de Diego, Víctor ; Martínez-Monseny, Antonio F. ; Muchart, Jordi ; Cuadras, Daniel ; Montero, Raquel ; Artuch, Rafael ; Pérez-Cerdá, Celia ; Pérez, Belén ; Pérez-Dueñas, Belén ; Poretti, Andrea ; Serrano, Mercedes</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4209-7583e5ec1126b765b3a05baca793c30c21aaedeff7a53622954a9214887abdb13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Atrophy</topic><topic>Atrophy - metabolism</topic><topic>Atrophy - pathology</topic><topic>Biochemistry</topic><topic>Cerebellum</topic><topic>Cerebellum - metabolism</topic><topic>Cerebellum - pathology</topic><topic>Child</topic><topic>Children</topic><topic>Cohort Studies</topic><topic>Disease Progression</topic><topic>Female</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Internal Medicine</topic><topic>Longitudinal Studies</topic><topic>Magnetic resonance imaging</topic><topic>Magnetic Resonance Imaging - methods</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Metabolic Diseases</topic><topic>Neuroimaging</topic><topic>Original Article</topic><topic>Pediatrics</topic><topic>Phosphomannomutase</topic><topic>Phosphotransferases (Phosphomutases) - deficiency</topic><topic>Phosphotransferases (Phosphomutases) - metabolism</topic><topic>Statistical analysis</topic><topic>Studies</topic><topic>Volumetric analysis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>de Diego, Víctor</creatorcontrib><creatorcontrib>Martínez-Monseny, Antonio F.</creatorcontrib><creatorcontrib>Muchart, Jordi</creatorcontrib><creatorcontrib>Cuadras, Daniel</creatorcontrib><creatorcontrib>Montero, Raquel</creatorcontrib><creatorcontrib>Artuch, Rafael</creatorcontrib><creatorcontrib>Pérez-Cerdá, Celia</creatorcontrib><creatorcontrib>Pérez, Belén</creatorcontrib><creatorcontrib>Pérez-Dueñas, Belén</creatorcontrib><creatorcontrib>Poretti, Andrea</creatorcontrib><creatorcontrib>Serrano, Mercedes</creatorcontrib><creatorcontrib>Collaborators of the CDG Spanish-Consortium</creatorcontrib><creatorcontrib>Collaborators of the CDG Spanish‐Consortium</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of inherited metabolic disease</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>de Diego, Víctor</au><au>Martínez-Monseny, Antonio F.</au><au>Muchart, Jordi</au><au>Cuadras, Daniel</au><au>Montero, Raquel</au><au>Artuch, Rafael</au><au>Pérez-Cerdá, Celia</au><au>Pérez, Belén</au><au>Pérez-Dueñas, Belén</au><au>Poretti, Andrea</au><au>Serrano, Mercedes</au><aucorp>Collaborators of the CDG Spanish-Consortium</aucorp><aucorp>Collaborators of the CDG Spanish‐Consortium</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)</atitle><jtitle>Journal of inherited metabolic disease</jtitle><stitle>J Inherit Metab Dis</stitle><addtitle>J Inherit Metab Dis</addtitle><date>2017-09</date><risdate>2017</risdate><volume>40</volume><issue>5</issue><spage>709</spage><epage>713</epage><pages>709-713</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><abstract>Objective
We aim to delineate the progression of cerebellar atrophy (the primary neuroimaging finding) in children with phosphomannomutase-deficiency (PMM2-CDG) by analyzing longitudinal MRI studies and performing cerebellar volumetric analysis and a 2D cerebellar measurement.
Methods
Statistical analysis was used to compare MRI measurements [midsagittal vermis relative diameter (MVRD) and volume] of children with PMM2-CDG and sex- and age-matched controls, and to determine the rate of progression of cerebellar atrophy at different ages.
Results
Fifty MRI studies of 33 PMM2-CDG patients were used for 2D evaluation, and 19 MRI studies were available for volumetric analysis. Results from a linear regression model showed that patients have a significantly lower MVRD and cerebellar volume compared to controls (
p
< 0.001 and
p
< 0.001 respectively). There was a significant negative correlation between age and MVRD for patients (
p
= 0.014). The rate of cerebellar atrophy measured by the loss of MVRD and cerebellar volume per year was higher at early ages (
r
= −0.578,
p
= 0.012 and
r
= −0.323,
p
= 0.48 respectively), particularly in patients under 11 years (
p
= 0.004). There was a significant positive correlation between MVRD and cerebellar volume in PMM2-CDG patients (
r
= 0.669,
p
= 0.001).
Conclusions
Our study quantifies a progression of cerebellar atrophy in PMM2-CDG patients, particularly during the first decade of life, and suggests a simple and reliable measure, the MVRD, to monitor cerebellar atrophy. Quantitative measurement of MVRD and cerebellar volume are essential for correlation with phenotype and outcome, natural follow-up, and monitoring in view of potential therapies in children with PMM2-CDG.</abstract><cop>Dordrecht</cop><pub>Springer Netherlands</pub><pmid>28341975</pmid><doi>10.1007/s10545-017-0028-4</doi><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0141-8955 |
| ispartof | Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.709-713 |
| issn | 0141-8955 1573-2665 |
| language | eng |
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| source | MEDLINE; SpringerNature Journals; Access via Wiley Online Library |
| subjects | Atrophy Atrophy - metabolism Atrophy - pathology Biochemistry Cerebellum Cerebellum - metabolism Cerebellum - pathology Child Children Cohort Studies Disease Progression Female Human Genetics Humans Internal Medicine Longitudinal Studies Magnetic resonance imaging Magnetic Resonance Imaging - methods Male Medicine Medicine & Public Health Metabolic Diseases Neuroimaging Original Article Pediatrics Phosphomannomutase Phosphotransferases (Phosphomutases) - deficiency Phosphotransferases (Phosphomutases) - metabolism Statistical analysis Studies Volumetric analysis |
| title | Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG) |
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