Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease (English)
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- New search for: Eskes, Eline C. B.
- New search for: van der Lienden, Martijn J. C.
- New search for: Roelofs, Joris J. T. H.
- New search for: Vogt, Liffert
- New search for: Aerts, Johannes M. F. G.
- New search for: Aten, Jan
- New search for: Hollak, Carla E. M.
- New search for: Eskes, Eline C. B.
- New search for: van der Lienden, Martijn J. C.
- New search for: Roelofs, Joris J. T. H.
- New search for: Vogt, Liffert
- New search for: Aerts, Johannes M. F. G.
- New search for: Aten, Jan
- New search for: Hollak, Carla E. M.
In:
JIMD Reports
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62
, 1
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15-21
;
2021
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ISSN:
- Article (Journal) / Electronic Resource
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Title:Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease
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Contributors:Eskes, Eline C. B. ( author ) / van der Lienden, Martijn J. C. ( author ) / Roelofs, Joris J. T. H. ( author ) / Vogt, Liffert ( author ) / Aerts, Johannes M. F. G. ( author ) / Aten, Jan ( author ) / Hollak, Carla E. M. ( author )
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Published in:JIMD Reports ; 62, 1 ; 15-21
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Publisher:
- New search for: John Wiley & Sons, Inc.
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Publication date:2021-11-01
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Size:7 pages
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Keywords:
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Source:
Table of contents – Volume 62, Issue 1
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 1
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Issue Information| 2021
- 3
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Distal phalangeal erythema in an infant with biallelic PDSS1 mutations: Expanding the phenotype of primary Coenzyme Q10 deficiencyBellusci, Marcello / García‐Silva, Maria Teresa / Martínez de Aragón, Ana / Martín, Miguel Angel et al. | 2021
- 6
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A stone in the boneHalfon, Matthieu / Cochat, Pierre / Kissling, Sebastien / Dattner, Nicolas / de Leval, Laurence / Fakhouri, Fadi / Pruijm, Menno / Bonny, Olivier et al. | 2021
- 9
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Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case reportTomita, Kazuyoshi / Okamoto, Shungo / Seto, Toshiyuki / Hamazaki, Takashi / So, Sairei / Yamamoto, Tatsuyoshi / Tanizawa, Kazunori / Sonoda, Hiroyuki / Sato, Yuji et al. | 2021
- 15
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Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry diseaseEskes, Eline C. B. / van der Lienden, Martijn J. C. / Roelofs, Joris J. T. H. / Vogt, Liffert / Aerts, Johannes M. F. G. / Aten, Jan / Hollak, Carla E. M. et al. | 2021
- 22
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Variation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patientLebredonchel, Elodie / Duvet, Sandrine / Douillard, Claire / Foulquier, François / Klein, André et al. | 2021
- 30
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Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch–Nyhan syndromeRana, Mandeep / Cuttin, Karen / Berry, Gerard T. / Torres, Alcy et al. | 2021
- 35
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HSD10 disease in a female: A case report and review of literatureUpadia, Jariya / Walano, Nicolette / Noh, Grace S. / Liu, Jiao / Li, Yuwen / Deputy, Stephen / Elliott, Lindsay T. / Wong, Joaquin / Lee, Jennifer A. / Caylor, Raymond C. et al. | 2021
- 44
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Late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemiaLeuger, Laurent / Dieu, Xavier / Chao de la Barca, Juan Manuel / Moriconi, Mikael / Halley, Guillaume / Donin de Rosière, Xavier / Reynier, Pascal / Mirebeau‐Prunier, Delphine / Homedan, Chadi et al. | 2021
- 49
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Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent strokePaz, José A. / Embiruçu, Emilia K. / Bueno, Clarissa / Ferreira, Rafaela C. C. L. / Oliveira, Fernanda S. / Pereira, Ane S. S. / Schwartz, Ida V. D. / Paiva, Anderson R. B. / Lucato, Leandro T. / Kok, Fernando et al. | 2021
- 56
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Health‐related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distressPihlstrøm, Hege Kampen / Weedon‐Fekjær, Mina Susanne / Bjerkely, Birgitte Leisner / von der Lippe, Charlotte / Ørstavik, Kristin / Mathisen, Per / Heimdal, Ketil / Jenssen, Trond Geir / Dahle, Dag Olav / Solberg, Olga Karin et al. | 2021
- 70
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Ketotic hypoglycemia in patients with Down syndromeDrachmann, Danielle / Carrigg, Austin / Weinstein, David A. / Petersen, Jacob Sten / Christesen, Henrik Thybo et al. | 2021
- 74
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Resistance exercise training with protein supplementation improves skeletal muscle strength and improves quality of life in late adolescents and young adults with Barth syndrome: A pilot studyBohnert, Kathryn L. / Ditzenberger, Grace / Bittel, Adam J. / de las Fuentes, Lisa / Corti, Manuela / Pacak, Christina A. / Taylor, Carolyn / Byrne, Barry J. / Reeds, Dominic N. / Cade, W. Todd et al. | 2021
- 85
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Method comparison of beta‐hydroxybutyrate point‐of‐care testing to serum in healthy childrenParmar, Komalben / Mosha, Maua / Weinstein, David A. / Riba‐Wolman, Rebecca et al. | 2021
- 91
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Clinical variability and outcome of succinyl‐CoA:3‐ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 casesAlghamdi, Malak A. / Tohary, Mohammed / Alzaidan, Hamad / Imtiaz, Faiqa / Al‐Hassnan, Zuhair N. et al. | 2021
- 97
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Corrigendum| 2021