PortalPublikationenDiagnosing mucopolysaccharidosis IVA

Diagnosing mucopolysaccharidosis IVA

Standard

Diagnosing mucopolysaccharidosis IVA. / Wood, Timothy C; Harvey, Katie; Beck, Michael; Burin, Maira Graeff; Chien, Yin-Hsiu; Church, Heather J; D'Almeida, Vânia; van Diggelen, Otto P; Fietz, Michael; Giugliani, Roberto; Harmatz, Paul; Hawley, Sara M; Hwu, Wuh-Liang; Ketteridge, David; Lukacs, Zoltan; Miller, Nicole; Pasquali, Marzia; Schenone, Andrea; Thompson, Jerry N; Tylee, Karen; Yu, Chunli; Hendriksz, Christian J.

in: J INHERIT METAB DIS, Jahrgang 36, Nr. 2, 01.03.2013, S. 293-307.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Wood, TC, Harvey, K, Beck, M, Burin, MG, Chien, Y-H, Church, HJ, D'Almeida, V, van Diggelen, OP, Fietz, M, Giugliani, R, Harmatz, P, Hawley, SM, Hwu, W-L, Ketteridge, D, Lukacs, Z, Miller, N, Pasquali, M, Schenone, A, Thompson, JN, Tylee, K, Yu, C & Hendriksz, CJ 2013, 'Diagnosing mucopolysaccharidosis IVA', J INHERIT METAB DIS, Jg. 36, Nr. 2, S. 293-307. https://doi.org/10.1007/s10545-013-9587-1

APA

Wood, T. C., Harvey, K., Beck, M., Burin, M. G., Chien, Y-H., Church, H. J., D'Almeida, V., van Diggelen, O. P., Fietz, M., Giugliani, R., Harmatz, P., Hawley, S. M., Hwu, W-L., Ketteridge, D., Lukacs, Z., Miller, N., Pasquali, M., Schenone, A., Thompson, J. N., ... Hendriksz, C. J. (2013). Diagnosing mucopolysaccharidosis IVA. J INHERIT METAB DIS, 36(2), 293-307. https://doi.org/10.1007/s10545-013-9587-1

Vancouver

Wood TC, Harvey K, Beck M, Burin MG, Chien Y-H, Church HJ et al. Diagnosing mucopolysaccharidosis IVA. J INHERIT METAB DIS. 2013 Mär 1;36(2):293-307. https://doi.org/10.1007/s10545-013-9587-1

Bibtex

@article{32ce915a076b4930bb1680016b693c90,
title = "Diagnosing mucopolysaccharidosis IVA",
abstract = "Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of clinical, radiographic, and laboratory findings. A group of biochemical genetics laboratory directors and clinicians involved in the diagnosis of MPS IVA, convened by BioMarin Pharmaceutical Inc., met to develop recommendations for diagnosis. The following conclusions were reached. Due to the wide variation and subtleties of radiographic findings, imaging of multiple body regions is recommended. Urinary glycosaminoglycan analysis is particularly problematic for MPS IVA and it is strongly recommended to proceed to enzyme activity testing even if urine appears normal when there is clinical suspicion of MPS IVA. Enzyme activity testing of GALNS is essential in diagnosing MPS IVA. Additional analyses to confirm sample integrity and rule out MPS IVB, multiple sulfatase deficiency, and mucolipidoses types II/III are critical as part of enzyme activity testing. Leukocytes or cultured dermal fibroblasts are strongly recommended for enzyme activity testing to confirm screening results. Molecular testing may also be used to confirm the diagnosis in many patients. However, two known or probable causative mutations may not be identified in all cases of MPS IVA. A diagnostic testing algorithm is presented which attempts to streamline this complex testing process.",
keywords = "Algorithms, Fibroblasts, Glycosaminoglycans, Humans, Leukocytes, Mucolipidoses, Mucopolysaccharidosis IV, Multiple Sulfatase Deficiency Disease, Mutation, Pathology, Molecular",
author = "Wood, {Timothy C} and Katie Harvey and Michael Beck and Burin, {Maira Graeff} and Yin-Hsiu Chien and Church, {Heather J} and V{\^a}nia D'Almeida and {van Diggelen}, {Otto P} and Michael Fietz and Roberto Giugliani and Paul Harmatz and Hawley, {Sara M} and Wuh-Liang Hwu and David Ketteridge and Zoltan Lukacs and Nicole Miller and Marzia Pasquali and Andrea Schenone and Thompson, {Jerry N} and Karen Tylee and Chunli Yu and Hendriksz, {Christian J}",
year = "2013",
month = mar,
day = "1",
doi = "10.1007/s10545-013-9587-1",
language = "English",
volume = "36",
pages = "293--307",
journal = "J INHERIT METAB DIS",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "2",

}

RIS

TY - JOUR

T1 - Diagnosing mucopolysaccharidosis IVA

AU - Wood, Timothy C

AU - Harvey, Katie

AU - Beck, Michael

AU - Burin, Maira Graeff

AU - Chien, Yin-Hsiu

AU - Church, Heather J

AU - D'Almeida, Vânia

AU - van Diggelen, Otto P

AU - Fietz, Michael

AU - Giugliani, Roberto

AU - Harmatz, Paul

AU - Hawley, Sara M

AU - Hwu, Wuh-Liang

AU - Ketteridge, David

AU - Lukacs, Zoltan

AU - Miller, Nicole

AU - Pasquali, Marzia

AU - Schenone, Andrea

AU - Thompson, Jerry N

AU - Tylee, Karen

AU - Yu, Chunli

AU - Hendriksz, Christian J

PY - 2013/3/1

Y1 - 2013/3/1

N2 - Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of clinical, radiographic, and laboratory findings. A group of biochemical genetics laboratory directors and clinicians involved in the diagnosis of MPS IVA, convened by BioMarin Pharmaceutical Inc., met to develop recommendations for diagnosis. The following conclusions were reached. Due to the wide variation and subtleties of radiographic findings, imaging of multiple body regions is recommended. Urinary glycosaminoglycan analysis is particularly problematic for MPS IVA and it is strongly recommended to proceed to enzyme activity testing even if urine appears normal when there is clinical suspicion of MPS IVA. Enzyme activity testing of GALNS is essential in diagnosing MPS IVA. Additional analyses to confirm sample integrity and rule out MPS IVB, multiple sulfatase deficiency, and mucolipidoses types II/III are critical as part of enzyme activity testing. Leukocytes or cultured dermal fibroblasts are strongly recommended for enzyme activity testing to confirm screening results. Molecular testing may also be used to confirm the diagnosis in many patients. However, two known or probable causative mutations may not be identified in all cases of MPS IVA. A diagnostic testing algorithm is presented which attempts to streamline this complex testing process.

AB - Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of clinical, radiographic, and laboratory findings. A group of biochemical genetics laboratory directors and clinicians involved in the diagnosis of MPS IVA, convened by BioMarin Pharmaceutical Inc., met to develop recommendations for diagnosis. The following conclusions were reached. Due to the wide variation and subtleties of radiographic findings, imaging of multiple body regions is recommended. Urinary glycosaminoglycan analysis is particularly problematic for MPS IVA and it is strongly recommended to proceed to enzyme activity testing even if urine appears normal when there is clinical suspicion of MPS IVA. Enzyme activity testing of GALNS is essential in diagnosing MPS IVA. Additional analyses to confirm sample integrity and rule out MPS IVB, multiple sulfatase deficiency, and mucolipidoses types II/III are critical as part of enzyme activity testing. Leukocytes or cultured dermal fibroblasts are strongly recommended for enzyme activity testing to confirm screening results. Molecular testing may also be used to confirm the diagnosis in many patients. However, two known or probable causative mutations may not be identified in all cases of MPS IVA. A diagnostic testing algorithm is presented which attempts to streamline this complex testing process.

KW - Algorithms

KW - Fibroblasts

KW - Glycosaminoglycans

KW - Humans

KW - Leukocytes

KW - Mucolipidoses

KW - Mucopolysaccharidosis IV

KW - Multiple Sulfatase Deficiency Disease

KW - Mutation

KW - Pathology, Molecular

U2 - 10.1007/s10545-013-9587-1

DO - 10.1007/s10545-013-9587-1

M3 - SCORING: Journal article

C2 - 23371450

VL - 36

SP - 293

EP - 307

JO - J INHERIT METAB DIS

JF - J INHERIT METAB DIS

SN - 0141-8955

IS - 2

ER -