Triheptanoin Supplementation Does not Affect Nutritional Status: A Case Report of Two Siblings With Adult Polyglucosan Body Disease

Ramona De Amicis; Alessandro Leone; Stefano Ravasenghi; Graziana Scigliuolo; Elena Mauro; Ettore Salsano; Alberto Battezzati; Simona Bertoli

doi:10.1080/07315724.2019.1695233

Triheptanoin Supplementation Does not Affect Nutritional Status: A Case Report of Two Siblings With Adult Polyglucosan Body Disease

Journal of the American College of Nutrition ◽

10.1080/07315724.2019.1695233 ◽

2019 ◽

Vol 39 (6) ◽

pp. 557-562

Author(s):

Ramona De Amicis ◽

Alessandro Leone ◽

Stefano Ravasenghi ◽

Graziana Scigliuolo ◽

Elena Mauro ◽

...

Keyword(s):

Case Report ◽

Nutritional Status ◽

Polyglucosan Body ◽

Adult Polyglucosan Body Disease

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Adult polyglucosan body disease: A case report of a manifesting heterozygote

Muscle & Nerve ◽

10.1002/mus.20384 ◽

2005 ◽

Vol 32 (5) ◽

pp. 675-681 ◽

Cited By ~ 21

Author(s):

Eroboghene E. Ubogu ◽

Stacey Tay Kiat Hong ◽

Hasan Orhan Akman ◽

Salvatore Dimauro ◽

Bashar Katirji ◽

...

Keyword(s):

Case Report ◽

Polyglucosan Body ◽

Adult Polyglucosan Body Disease

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Corpora Amylacea and Unexpected Death: A Case of Adult Polyglucosan Body Disease Diagnosed at Forensic Autopsy

Academic Forensic Pathology ◽

10.23907/2012.012 ◽

2012 ◽

Vol 2 (1) ◽

pp. 92-95

Author(s):

Timothy L. Williams ◽

R. Ross Reichard

Keyword(s):

Forensic Autopsy ◽

Corpora Amylacea ◽

Unexpected Death ◽

Polyglucosan Body ◽

Adult Polyglucosan Body Disease

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Adult polyglucosan body disease – Management and evolution in an intensive rehabilitation program

Rehabilitación ◽

10.1016/j.rh.2020.06.009 ◽

2020 ◽

Author(s):

I. Carneiro ◽

M. Rodrigues ◽

A. João Costa ◽

R. Cadilha ◽

A. Lima

Keyword(s):

Disease Management ◽

Rehabilitation Program ◽

Polyglucosan Body ◽

Intensive Rehabilitation ◽

Adult Polyglucosan Body Disease

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Glycogen branching enzyme deficiency in adult polyglucosan body disease

Annals of Neurology ◽

10.1002/ana.410330114 ◽

1993 ◽

Vol 33 (1) ◽

pp. 88-93 ◽

Cited By ~ 69

Author(s):

Claudio Bruno ◽

Serenella Servidei ◽

Sara Shanske ◽

George Karpati ◽

Stirling Carpenter ◽

...

Keyword(s):

Enzyme Deficiency ◽

Branching Enzyme ◽

Polyglucosan Body ◽

Adult Polyglucosan Body Disease ◽

Glycogen Branching Enzyme

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Adult Polyglucosan Body Disease (APBD)

Journal of Neuropathology & Experimental Neurology ◽

10.1097/00005072-198807000-00007 ◽

1988 ◽

Vol 47 (4) ◽

pp. 459-474 ◽

Cited By ~ 48

Author(s):

Francoise Gray ◽

Romain Gherardi ◽

Anne Marshall ◽

Ivan Janota ◽

Jacques Poirier

Keyword(s):

Polyglucosan Body ◽

Adult Polyglucosan Body Disease

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Effect of a 5-mo nutritional intervention on nutritional status and quality of life for patient with 3-hydroxyisobutyryl-coenzyme A hydrolase deficiency: A case report

Nutrition ◽

10.1016/j.nut.2015.03.012 ◽

2015 ◽

Vol 31 (11-12) ◽

pp. 1452-1455

Author(s):

Chun-wei Li ◽

Kang Yu ◽

Yan Xu ◽

Xia-yuan Sun ◽

Rong-rong Li ◽

...

Keyword(s):

Quality Of Life ◽

Case Report ◽

Nutritional Status ◽

Coenzyme A ◽

Nutritional Intervention

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Adult polyglucosan body disease: Proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene

Muscle & Nerve ◽

10.1002/mus.20916 ◽

2007 ◽

Vol 37 (4) ◽

pp. 530-536 ◽

Cited By ~ 20

Author(s):

Roberto Massa ◽

Claudio Bruno ◽

Alessandro Martorana ◽

Nicola de Stefano ◽

Otto P. van Diggelen ◽

...

Keyword(s):

Magnetic Resonance ◽

Magnetic Resonance Spectroscopy ◽

Proton Magnetic Resonance ◽

Proton Magnetic Resonance Spectroscopy ◽

Novel Mutation ◽

Resonance Spectroscopy ◽

Polyglucosan Body ◽

The Brain ◽

Adult Polyglucosan Body Disease

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Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease

Neurology Genetics ◽

10.1212/nxg.0000000000000138 ◽

2017 ◽

Vol 3 (2) ◽

pp. e138 ◽

Cited By ~ 2

Author(s):

Yasuo Harigaya ◽

Takashi Matsukawa ◽

Yukio Fujita ◽

Kazuyuki Mizushima ◽

Hiroyuki Ishiura ◽

...

Keyword(s):

Japanese Family ◽

Polyglucosan Body ◽

Adult Polyglucosan Body Disease

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Adult polyglucosan body disease presenting as a unilateral progressive plexopathy

Muscle & Nerve ◽

10.1002/mus.25041 ◽

2016 ◽

Vol 53 (6) ◽

pp. 976-981 ◽

Cited By ~ 1

Author(s):

Elie Naddaf ◽

Charles D. Kassardjian ◽

Yasemin Gulcan Kurt ◽

Hasan Orhan Akman ◽

Anthony J. Windebank

Keyword(s):

Polyglucosan Body ◽

Adult Polyglucosan Body Disease

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Teaching NeuroImages: Prominent spinal cord atrophy and white matter changes in adult polyglucosan body disease

Neurology ◽

10.1212/wnl.0000000000003945 ◽

2017 ◽

Vol 88 (20) ◽

pp. e194-e195

Author(s):

A. Sebastian López Chiriboga

Keyword(s):

Spinal Cord ◽

White Matter ◽

Spinal Cord Atrophy ◽

White Matter Changes ◽

Polyglucosan Body ◽

Adult Polyglucosan Body Disease

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