Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases (vol 118, pg 206, 2016)

被引：0

作者：

Cassiman, David ^{[1
]}

Packman, Seymour ^{[2
]}

Bembi, Bruno ^{[3
]}

Ben Turkia, Hadhami ^{[4
]}

Al-Sayed, Moeenaldeen ^{[5
]}

Schiff, Manuel ^{[6
,7
]}

Imrie, Jackie ^{[8
]}

Mabe, Paulina ^{[9
]}

Takahashi, Tsutomu ^{[10
]}

Mengel, Karl Eugen ^{[11
]}

Giugliani, Roberto ^{[12
,13
]}

Cox, Gerald F. ^{[14
]}

机构：

[1] Univ Leuven, Metab Ctr, Leuven, Belgium

[2] Univ Calif San Francisco, San Francisco, CA 94143 USA

[3] Acad Med Ctr Hosp Udine, Udine, Italy

[4] La Rabta Hosp, Tunis, Tunisia

[5] King Faisal Specialist Hosp & Res Ctr, Riyadh, Saudi Arabia

[6] Univ Paris Diderot, APHP, Paris, France

[7] Robert Debre Hosp, Reference Ctr Inborn Errors Metab, INSERM, U1141, Paris, France

[8] Niemann Pick Dis Grp UK, Washington, Tyne & Wear, England

[9] Hosp Dr Exequiel Gonzalez Cortes, Santiago, Chile

[10] Akita Univ, Sch Med, Akita, Japan

[11] Univ Med Ctr, Ctr Pediat & Adolescents Med, Villa Metab, Mainz, Germany

[12] Univ Fed Rio Grande do Sul, HCPA, Dept Genet, Med Genet Serv, Porto Alegre, RS, Brazil

[13] INAGEMP, Porto Alegre, RS, Brazil

[14] Sanofi Genzyme, Clin Dev, Cambridge, MA USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2018年 / 125卷 / 04期

关键词：

D O I：

10.1016/j.ymgme.2017.09.005

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：360 / 360

页数：1

共 8 条

[1] Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases
Cassiman, David
Packman, Seymour
Bembi, Bruno
Ben Turkia, Hadhami
Al-Sayed, Moeenaldeen
Schiff, Manuel
Imrie, Jackie
Mabe, Paulina
Takahashi, Tsutomu
Mengel, Karl Eugen
Giugliani, Roberto
Cox, Gerald F.
MOLECULAR GENETICS AND METABOLISM, 2016, 118 (03) : 206 - 213
[2] Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up
Lipinski, Patryk
Kuchar, Ladislav
Zakharova, Ekaterina Y.
Baydakova, Galina V.
Lugowska, Agnieszka
Tylki-Szymanska, Anna
ORPHANET JOURNAL OF RARE DISEASES, 2019, 14 (1)
[3] Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up
Patryk Lipiński
Ladislav Kuchar
Ekaterina Y. Zakharova
Galina V. Baydakova
Agnieszka Ługowska
Anna Tylki-Szymańska
Orphanet Journal of Rare Diseases, 14
[4] Combined Emphysema and Interstitial Lung Disease as a Rare Presentation of Pulmonary Involvement in a Patient with Chronic Visceral Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B)
Opoka, Lucyna
Wyrostkiewicz, Dorota
Radwan-Rohrenschef, Piotr
Rozy, Adriana
Tylki-Szymanska, Anna
Tomkowski, Witold
Szturmowicz, Monika
AMERICAN JOURNAL OF CASE REPORTS, 2020, 21 : e923394 - 1
[5] Severe form of Niemann-Pick disease type B in Iranian population: A review of the spectrum of disease in acid sphingomyelinase deficiency
Thomas, Beena
Banikazemi, Maryam
MOLECULAR GENETICS AND METABOLISM, 2024, 141 (02)
[6] Adult acid sphingomyelinase deficiency (Niemann-Pick disease type B): A difficult pathway to a diagnosis in 4 novel cases
Villarrubia, Jesus
Munoz, Gloria
Ciubotariu, Crina
Dominguez-Ruiz, Maria
Piris-Villaespesa, Miguel
Unceta, Maria
Ceberio, Leticia
Church, Heather
Norouzi, Mohsen
Ross, Mariken
Perez-de Pedro, Ivan
Stepien, Karolina M.
del Castillo, Francisco J.
MOLECULAR GENETICS AND METABOLISM, 2022, 135 (02) : S125 - S125
[7] Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases
Lidove, O.
Belmatoug, N.
Froissart, R.
Lavigne, C.
Durieu, I.
Mazodier, K.
Serratrice, C.
Douillard, C.
Goizet, C.
Cathebras, P.
Besson, G.
Amoura, Z.
Tazi, A.
Gatfosse, M.
Riviere, S.
Sene, T.
Vanier, M. T.
Ziza, J. -M.
REVUE DE MEDECINE INTERNE, 2017, 38 (05): : 291 - 299
[8] Cause of death in patients with attenuated acid sphingomyelinase deficiency: Comprehensive literature review and report of new cases
Imrie, Jackie
Mengel, Karl Eugen
Cassiman, David
Mabe, Paulina
Al-Sayed, Moeen
Bembi, Bruno
Giugliani, Roberto
Packman, Seymour
Schiff, Manuel
Takahashi, Tsutomu
Ben Turkia, Hadhami
Cox, Gerald F.
MOLECULAR GENETICS AND METABOLISM, 2016, 117 (02) : S60 - S60

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