Zaloguj się

Gotowe bibliografie tematyczne / Maroteaux-Lamy / Artykuły w czasopismach

Kliknij ten link, aby zobaczyć inne rodzaje publikacji na ten temat: Maroteaux-Lamy.

Artykuły w czasopismach na temat „Maroteaux-Lamy”

Autor: Grafiati

Data publikacji: 2 czerwca 2025

Data aktualizacji: 31 lipca 2025

Utwórz poprawne odniesienie w stylach APA, MLA, Chicago, Harvard i wielu innych

Wybierz rodzaj źródła:

Sprawdź 50 najlepszych artykułów w czasopismach naukowych na temat „Maroteaux-Lamy”.

Przycisk „Dodaj do bibliografii” jest dostępny obok każdej pracy w bibliografii. Użyj go – a my automatycznie utworzymy odniesienie bibliograficzne do wybranej pracy w stylu cytowania, którego potrzebujesz: APA, MLA, Harvard, Chicago, Vancouver itp.

Możesz również pobrać pełny tekst publikacji naukowej w formacie „.pdf” i przeczytać adnotację do pracy online, jeśli odpowiednie parametry są dostępne w metadanych.

Przeglądaj artykuły w czasopismach z różnych dziedzin i twórz odpowiednie bibliografie.

1

Al-Mosawi, Aamir. "Clinical and Radiologic Diagnosis of a Patient with Maroteaux-Lamy Syndrome." Series of Medical Science 1, no. 1 (2020): 1–5. https://doi.org/10.5281/zenodo.4624696.

Pełny tekst źródła

Streszczenie:

Al-Mosawi AJ. Clinical and Radiologic Diagnosis of a Patient with Maroteaux-Lamy Syndrome. Series of Medical Science 2020 January13 ;:1(1):1-5. Doi: 10.5281/zenodo.4624696 https://seriesscience.com/wp-content/uploads/2020/01/Maroteaux-Lamy-Syndrome.pdf

Style APA, Harvard, Vancouver, ISO itp.

2

Lakhotia, Siddharth, Alok Sharma, G. P. Shrivastava, and S. K. Jain. "Maroteaux-Lamy Syndrome." Indian Journal of Pediatrics 71, no. 10 (2004): 933–35. http://dx.doi.org/10.1007/bf02830840.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

3

Bell, Douglas JW, Cheng He, John L. Pauli, and Rishendran Naidoo. "Maroteaux-Lamy syndrome: a rare and challenging case of mitral valve replacement." Asian Cardiovascular and Thoracic Annals 26, no. 7 (2016): 560–62. http://dx.doi.org/10.1177/0218492316675533.

Pełny tekst źródła

Streszczenie:

Maroteaux-Lamy syndrome is a very rare multisystem disorder. Cardiac valve surgery is common in these patients who present a unique set of perioperative and intraoperative challenges to the surgeon and treating team. We describe successful mitral valve replacement using an inverted aortic prosthesis in a 29-year-old lady with Maroteaux-Lamy syndrome, with a good result at 10 months.

Style APA, Harvard, Vancouver, ISO itp.

4

Hasanova, Ravana, and Tamilla Gulieva. "PATHOLOGIES OBSERVED IN THE ORGAN OF VISION IN SOME GENETIC SYNDROMES (CLINICAL CASES)." Azerbaijan Journal of Ophthalmology, no. 2025/17/01/52 (April 8, 2025): 59–70. https://doi.org/10.71110/ajo791020251701525970.

Pełny tekst źródła

Streszczenie:

The article presents clinical cases of ocular pathologies that we have encountered in various genetic syndromes. The object of the study were children with various rare genetic syndromes who applied to the Medical Expert Commission of the National Ophthalmology Centre named after Academician Zarifa Aliyeva in 2023. In particular, Fraser, Pierson, Maroteaux-Lamy, Warburg-Micro and Bardet-Biedl syndromes were presented, as well as pathologies that these syndromes caused in the organ of vision. It should be noted that the children were born to firstdegree consanguineous marriages. Key words: cons

Style APA, Harvard, Vancouver, ISO itp.

5

Mtar, Aida, Bassem Charfeddine, Imen Braham, et al. "Maroteaux-Lamy syndrome: a case report." Annales de biologie clinique 69, no. 6 (2011): 693–97. http://dx.doi.org/10.1684/abc.2011.0627.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

6

Laver, Nora M. V., Miles H. Friedlander, and Ian W. McLean. "Mild Form of Maroteaux—Lamy Syndrome." Cornea 17, no. 6 (1998): 664. http://dx.doi.org/10.1097/00003226-199811000-00015.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

7

Cantor, Louis B., Jean A. Disseler, and Fred M. Wilson. "Glaucoma in the Maroteaux-Lamy Syndrome." American Journal of Ophthalmology 108, no. 4 (1989): 426–30. http://dx.doi.org/10.1016/s0002-9394(14)73311-2.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

8

Magalhães, Augusto, Jorge Meira, Ana Maria Cunha, et al. "Fundoscopic Changes in Maroteaux-Lamy Syndrome." Case Reports in Ophthalmological Medicine 2019 (December 28, 2019): 1–4. http://dx.doi.org/10.1155/2019/4692859.

Pełny tekst źródła

Streszczenie:

Purpose. To describe a clinical case of mucopolysaccharidosis type VI (MPS VI), or Maroteaux-Lamy syndrome, with fundoscopic alterations that may correspond to scleral deposits of glycosaminoglycans. Materials and Methods. Clinical case report. Results. A 16-year-old girl with MPS VI was examined at the Ophthalmology Department for poor vision due to opacified corneas. Treatment consisted of bilateral penetrating keratoplasty. Retinographies and enhanced depth imaging optical coherence tomography (EDI-OCT) were performed after surgery, suggesting the presence of scleral glycosaminoglycan depos

Style APA, Harvard, Vancouver, ISO itp.

9

Varssano, David. "Corneal Transplantation in Maroteaux-Lamy Syndrome." Archives of Ophthalmology 115, no. 3 (1997): 428. http://dx.doi.org/10.1001/archopht.1997.01100150430024.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

10

Stürmer, J. "Mukopolysaccharidose Typ VI-A (Morbus Maroteaux-Lamy)." Klinische Monatsblätter für Augenheilkunde 194, no. 04 (1989): 273–81. http://dx.doi.org/10.1055/s-2008-1046370.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

11

Albano, Lilian M. J., Sofia S. M. M. Sugayama, Débora R. Bertola, et al. "Clinical and laboratorial study of 19 cases of mucopolysaccharidoses." Revista do Hospital das Clínicas 55, no. 6 (2000): 213–18. http://dx.doi.org/10.1590/s0041-87812000000600004.

Pełny tekst źródła

Streszczenie:

The mucopolysaccharidoses (MPS) are a heterogeneous group of inborn errors of lysosomal glycosaminoglycan (GAG) metabolism. The importance of this group of disorders among the inborn errors of metabolism led us to report 19 cases. METHOD: We performed clinical, radiological, and biochemical evaluations of the suspected patients, which allowed us to establish a definite diagnosis in 19 cases. RESULTS: Not all patients showed increased GAG levels in urine; enzyme assays should be performed in all cases with strong clinical suspicion. The diagnosis was made on average at the age of 48 months, and

Style APA, Harvard, Vancouver, ISO itp.

12

Querrach, I., I. Tadmori, S. Abourazzak, et al. "SYNDROME DE MAROTEAUX-LAMY : A PROPOS DUN CAS." International Journal of Advanced Research 12, no. 11 (2024): 849–52. https://doi.org/10.21474/ijar01/19894.

Pełny tekst źródła

Streszczenie:

La mucopolysaccharidose VI (MPS VI) ou syndrome de Maroteaux-Lamy de transmission autosomique recessive est due a des mutations du gene ARSB responsable dune diminution voire absence de lactivite arylsulfatase B (ASB) et de linterruption de la degradation de dermatane sulfate et de la chondroitine sulfate qui saccumulent au niveau des tissus. Nous presentons ici un cas dun garÃƒÂ§on de 7 ans, issu dun mariage consanguin de premier degre, qui presentait un retard de croissance, des infections recurrentes des voies respiratoires superieures avec un developpement mental normal. Lexamen a montre u

Style APA, Harvard, Vancouver, ISO itp.

13

Rahmati-Kamel, Mohsen, Mohammadali Javadi, Ahmad Shojaei, Medi Eslani, and Farid Karimian. "Deep Anterior Lamellar Keratoplasty for Maroteaux-Lamy Syndrome." Cornea 29, no. 12 (2010): 1459–61. http://dx.doi.org/10.1097/ico.0b013e3181d927d6.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

14

Boukri, A., S. Khensal, N. Nouri, I. Outili, and A. Lezzar. "Maladie de Maroteaux-Lamy : à propos d’un cas." Annales d'Endocrinologie 78, no. 4 (2017): 389. http://dx.doi.org/10.1016/j.ando.2017.07.564.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

15

Vestermark, S., T. Tønnesen, M. Schultz Andersen, and F. Güttler. "Mental retardation in a patient with Maroteaux-Lamy." Clinical Genetics 31, no. 2 (2008): 114–17. http://dx.doi.org/10.1111/j.1399-0004.1987.tb02779.x.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

16

Vougioukas, V. I., A. Berlis, M. V. Kopp, R. Korinthenberg, J. Spreer, and V. van Velthoven. "Neurosurgical Interventions in Children with Maroteaux-Lamy Syndrome." Pediatric Neurosurgery 35, no. 1 (2001): 35–38. http://dx.doi.org/10.1159/000050383.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

17

Ranjitha, YS, Uma Kamat, AnitaN Shetty, and Sanjeevani Zadkar. "Airway hitches and management in Maroteaux-Lamy syndrome." Journal of Anaesthesiology Clinical Pharmacology 38, no. 4 (2022): 683. http://dx.doi.org/10.4103/joacp.joacp_17_21.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

18

Oliveira Andrade, Lanna, Lucas Nery dos Santos, Marluci Garcia Lima, Moisés Costa Silva, and Nelson Jorge Carvalho Batista. "PERFIL CLÍNICO, DIAGNÓSTICO E TRATAMENTO DOS PACIENTES COM MUCOPOLISSACARIDOSE TIPO VI: REVISÃO INTEGRATIVA." RECIMA21 - Revista Científica Multidisciplinar - ISSN 2675-6218 3, no. 8 (2022): e381630. http://dx.doi.org/10.47820/recima21.v3i8.1630.

Pełny tekst źródła

Streszczenie:

A Síndrome de Maroteaux-Lamy, também conhecida como mucopolissacaridose tipo VI, é uma síndrome que faz parte de um grupo de doenças metabólicas raríssimas, e afeta um pequeno número de indivíduos, quando comparado com a população geral, ou seja, a incidência mundial é estimada em 1:248.000 a 1:300.000 nascidos vivos entre as mais diferentes populações. O estudo tem como objetivo principal falar avaliação do diagnóstico e tratamento de pacientes com MPS VI. Os dados foram coletados utilizando as bases cientificas: Literatura Latino-Americana e do Caribe em Ciências da Saúde (LILACS), National

Style APA, Harvard, Vancouver, ISO itp.

19

Al-Mosawi, Aamir Jalal. "Clinical and Radiologic Diagnosis of a Patient with Maroteaux-Lamy Syndrome." Series of Medical Science 1, no. 1 (2020): 1–5. http://dx.doi.org/10.54178/2771-0629.2020a1.

Pełny tekst źródła

Streszczenie:

Background: Diagnosis of rare diseases or disorders is understandably challenging because it is unfeasible for practicing physicians to make themselves familiar with hundreds of rare diseases. The diagnosis of rare inherited metabolic syndromes such as mucopolysaccharidoses is additionally complicated by the lack of confirmatory sophisticated laboratory tests in many areas of the world. In the more developed countries, the diagnosis of mucopolysaccharidoses depends on urine tests for excessive mucopolysaccharides and enzyme assays. However, these tests are not easily accessible in countries li

Style APA, Harvard, Vancouver, ISO itp.

20

Hopwood, J. J., H. Elliott, V. J. Muller, and G. T. P. Saccone. "Diagnosis of Maroteaux—Lamy syndrome by the use of radiolabelled oligosaccharides as substrates for the determination of arylsulphatase B activity." Biochemical Journal 234, no. 3 (1986): 507–14. http://dx.doi.org/10.1042/bj2340507.

Pełny tekst źródła

Streszczenie:

The kinetic parameters (Km and V) of human arylsulphatase B (4-sulpho-N-acetylgalactosamine sulphatase) activity in cultured skin fibroblasts were determined with a variety of substrates matching structural aspects of the physiological substrates in vivo chondroitin 4-sulphate and dermatan sulphate. More structurally complex substrates, in which several aspects of the aglycone structure of the natural substrate were maintained, were desulphated up to 4400 times faster than the minimum arylsulphatase-B-specific substrate, namely the monosaccharide N-acetylgalactosamine 4-sulphate. Aglycone stru

Style APA, Harvard, Vancouver, ISO itp.

21

Tamaki, Norihiko, Noriaki Kojima, Michinori Tanimoto, Touru Suyama, and Satoshi Matsumoto. "Myelopathy Due to Diffuse Thickening of the Cervical Dura Mater in Maroteaux-Lamy Syndrome: Report of a Case." Neurosurgery 21, no. 3 (1987): 416–19. http://dx.doi.org/10.1227/00006123-198709000-00027.

Pełny tekst źródła

Streszczenie:

Abstract A rare case of diffuse thickening of the cervical dura mater leading to cord compression in Maroteaux-Lamy syndrome (mucopolysaccharidosis VI) is reported. Spinal computed tomographic scans after intrathecal metrizamide injection and magnetic resonance images are shown. This condition presents as cervical myelopathy. Early decompression can be beneficial for patients with this infrequent metabolic disorder.

Style APA, Harvard, Vancouver, ISO itp.

22

Puri, Rajeev, Arpita Saxena, Awak Mittal, et al. "Pycnodysostosis: An Anaesthetic Approach to This Rare Genetic Disorder." Case Reports in Anesthesiology 2013 (2013): 1–3. http://dx.doi.org/10.1155/2013/716756.

Pełny tekst źródła

Streszczenie:

Pycnodysostosis (the Toulouse-Lautrec syndrome) is a rare autosomal-recessive disorder of osteoclast dysfunction. This disorder was first described by Maroteaux and Lamy in 1962. We describe anaesthetic management of a 35-year-old female having pyknodysostosis with fracture shaft left femur with anticipated difficult intubation. Therefore, spinal anesthesia was planned for her fracture fixation. The intra- and postoperative period remains uneventful.

Style APA, Harvard, Vancouver, ISO itp.

23

Mikhailova, L. K., O. A. Polyakova, E. Yu Zakharova, et al. "LATE DIAGNOSIS OF MUCOPOLYSACCHARIDOSIS TYPE IV (MAROTEAUX–LAMY SYNDROME)." Vestnik travmatologii i ortopedii imeni N.N. Priorova, no. 3 (September 30, 2017): 51–55. http://dx.doi.org/10.32414/0869-8678-2017-3-51-55.

Pełny tekst źródła

Streszczenie:

Peculiarities of the clinical manifestation of mucopolysaccharidosis type IV diagnosed at the age of 30 years only are presented. In spite of favorable disease course after the age of 30 years combined vertebral canal stenosis more marked at C0-C1 level, cervical myelopathy and spastic tetraparesis that required surgical intervention. Special attention was paid to the genetic aspects of diagnosis and potential causes of delayed disease development.

Style APA, Harvard, Vancouver, ISO itp.

24

Cáceres Matta, Sandra Viviana, and Luis Eduardo Carmona Arango. "Manifestaciones orales del síndrome de Maroteaux-Lamy (Mucopolisacaridosis VI)." Revista Científica Odontológica 9, no. 1 (2021): e051. http://dx.doi.org/10.21142/2523-2754-0901-2021-051.

Pełny tekst źródła

Streszczenie:

La mucopolisacaridosis tipo VI, también conocida como síndrome de Maroteaux-Lamy, es un trastorno lisosómico autosómico recesivo, causado por la deficiencia de la enzima arilsulfatasa B, lo que conduce a la acumulación de dermatán sulfato en los tejidos y su excreción urinaria. La deposición de mucopolisacáridos genera un trastorno progresivo que afecta a múltiples órganos y que, a menudo, resulta en la muerte a temprana edad. Esta enfermedad tiene varias manifestaciones orales, entre las que destacan las complicaciones dentales, que pueden ser graves e incluir folículos similares a quistes de

Style APA, Harvard, Vancouver, ISO itp.

25

Modi, Manish, Veenu Singla, Niranjan Khandelwal, S. Prabhakar, and Dhananjay Duberkar. "Maroteaux–Lamy Syndrome (Mucopolysaccharidosis VI) Presenting as Familial Myelopathy." International Journal of Neuroscience 121, no. 6 (2011): 337–40. http://dx.doi.org/10.3109/00207454.2011.553754.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

26

Mikhailova, Luydmila K., O. A. Polyakova, E. Yu Zakharova, et al. "Late Diagnosis of Mucopolysaccharidosis Type IV (Maroteaux-Lamy syndrome)." N.N. Priorov Journal of Traumatology and Orthopedics 24, no. 3 (2017): 51–55. http://dx.doi.org/10.17816/vto201724351-55.

Pełny tekst źródła

Streszczenie:

Peculiarities of the clinical manifestation of mucopolysaccharidosis type IV diagnosed at the age of 30 years only are presented. In spite of favorable disease course after the age of 30 years combined vertebral canal stenosis more marked at C0-C1 level, cervical myelopathy and spastic tetraparesis that required surgical intervention. Special attention was paid to the genetic aspects of diagnosis and potential causes of delayed disease development.

Style APA, Harvard, Vancouver, ISO itp.

27

Goel, Atul, Abhidha Shah, Neha Jadhav, and Saswat Dandpat. "Atlantoaxial instability in a case of Maroteaux–Lamy syndrome." Journal of Craniovertebral Junction and Spine 12, no. 1 (2021): 91. http://dx.doi.org/10.4103/jcvjs.jcvjs_5_21.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

28

Karir, Aneesh, Michael Geraghty, Michael Vassilyadi, and Asif Doja. "Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux–Lamy Syndrome)." Tremor and Other Hyperkinetic Movements 8 (June 1, 2018): 548. http://dx.doi.org/10.5334/tohm.413.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

29

Harmatz, Paul, Chester B. Whitley, Lewis Waber, et al. "Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)." Journal of Pediatrics 144, no. 5 (2004): 574–80. http://dx.doi.org/10.1016/j.jpeds.2004.03.018.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

30

Thorne, John A., Mohsen Javadpour, David G. Hughes, Ed Wraith, and Richard A. Cowie. "Craniovertebral Abnormalities in Type VI Mucopolysaccharidosis (Maroteaux-Lamy Syndrome)." Neurosurgery 48, no. 4 (2001): 849–53. http://dx.doi.org/10.1227/00006123-200104000-00031.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

31

Thorne, John A., Mohsen Javadpour, David G. Hughes, Ed Wraith, and Richard A. Cowie. "Craniovertebral Abnormalities in Type VI Mucopolysaccharidosis (Maroteaux-Lamy Syndrome)." Neurosurgery 48, no. 4 (2001): 849–53. http://dx.doi.org/10.1097/00006123-200104000-00031.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

32

Golda, Adam, Agnieszka Jurecka, and Anna Tylki-Szymanska. "Cardiovascular manifestations of mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome)." International Journal of Cardiology 158, no. 1 (2012): 6–11. http://dx.doi.org/10.1016/j.ijcard.2011.06.097.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

33

Alizada, S., Sh. Musayev, P. Toparlak, E. Rasulov, R. Karimova, and A. Salimova. "EPIDEMIOLOGY STUDIES OF MUCOPOLYSACCHARIDOSES LYSOSOMAL DISEASES IN THE POPULATION OF AZERBAIJAN REPUBLIC." Sciences of Europe, no. 164 (May 14, 2025): 8–14. https://doi.org/10.5281/zenodo.15401232.

Pełny tekst źródła

Streszczenie:

The first time we started our epidemiological studies of mucopolysaccharidoses lysosomal diseases in the population of Azerbaijan Republic. Each suspicious patient in mucopolysaccharidoses lysosomal diseases underwent medical genetic consultation, glucoseaminglycans were analysed in the urine with thin-layer chromatography, relative lysosomal enzyme activities were analyzed in blood serum. Gene level diagnostics were done by means of Sanger sequencing and New Generation Sequencing genetic methodiques. Altogether there 947 genetically affected patients and their family members from 29 out of 86

Style APA, Harvard, Vancouver, ISO itp.

34

Dos Santos, Aline Silva, Fernando Presídio dos Santos Neto, Delson Arcanjo Silva, and Delano Oliveira Souza. "Mucopolissacaridose tipo VI (Síndrome de Maroteaux Lamy): relato de caso." Revista de Ciências Médicas e Biológicas 10, no. 2 (2011): 194. http://dx.doi.org/10.9771/cmbio.v10i2.5250.

Pełny tekst źródła

Streszczenie:

<p class="MsoNormal" style="text-align: justify; margin: 0cm 0cm 10pt;"><span style="line-height: 11px;">Mucopolissacaridose VI (MPSVI), conhecida como Síndrome de Maroteaux-Lamy é uma doença hereditária, resultante da deficiência da enzima N-acetilgalactosamina-4-sulfatase, causando acúmulo do glicosaminoglicano Dermatan sulfato em todos os tecidos, resultando em alterações nos órgãos afetados. O diagnóstico é obtido através de excreção aumentada de Dermatan sulfato na urina e demonstração reduzida da enzima supracitada. O tratamento é realizado a fim de melhorar a qualidade de vi

Style APA, Harvard, Vancouver, ISO itp.

35

Pastores, Gregory M. "Galsulfase: enzyme therapy for mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome)." Pediatric Health 4, no. 1 (2010): 17–24. http://dx.doi.org/10.2217/phe.09.71.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

36

Tanvi, S. Haldipurkar, and Somen Misra. "Early ocular findings in a patient of Maroteaux-Lamy Syndrome." International Journal of Medical Research & Health Sciences 3, no. 1 (2014): 216. http://dx.doi.org/10.5958/j.2319-5886.3.1.047.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

37

Tan, C. T., H. V. Schaff, F. A. Miller, W. D. Edwards, and P. S. Karnes. "Valvular heart disease in four patients with Maroteaux-Lamy syndrome." Circulation 85, no. 1 (1992): 188–95. http://dx.doi.org/10.1161/01.cir.85.1.188.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

38

Jiménez-Martín, Antonio, Rosalía Martínez-Pérez, Jesús González-Herranz, and José Luis Marenco de la Fuente. "Síndrome de Maroteaux-Lamy en un niño de 10 años." Medicina Clínica 137, no. 2 (2011): 95. http://dx.doi.org/10.1016/j.medcli.2010.01.012.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

39

Villani, G. R. D., N. Balzano, D. Vitale, M. Saviano, V. Pavone, and P. Di Natale. "Maroteaux–Lamy syndrome: five novel mutations and their structural localization." Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1453, no. 2 (1999): 185–92. http://dx.doi.org/10.1016/s0925-4439(98)00099-4.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

40

Hansen, Daniel, Gaddum D. Reddy, Aloysia Schwabe, and Andrew Jea. "Constriction band at the craniocervical junction in Maroteaux-Lamy syndrome." Spine Journal 16, no. 4 (2016): e231-e232. http://dx.doi.org/10.1016/j.spinee.2015.10.015.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

41

Quartel, Adrian, Sue Graham, Paul Harmatz, and Ping Lin. "Growth charts for individuals with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)." Molecular Genetics and Metabolism 111, no. 2 (2014): S88—S89. http://dx.doi.org/10.1016/j.ymgme.2013.12.214.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

42

Boudour, H., N. Roustila, K. Benchiheb, and H. Benmekhbi. "P-060 – La maladie de Maroteaux et Lamy: un cas." Archives de Pédiatrie 22, no. 5 (2015): 248. http://dx.doi.org/10.1016/s0929-693x(15)30245-1.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

43

Aziz, Farida, Fatima Farida, and Neelam Bashir. "PYCNODYSOSTOSIS; A RARE DISEASE CASE REPORT." Journal of Ayub Medical College Abbottabad 34, no. 1 (2022): 216–19. https://doi.org/10.55519/jamc-01-10336.

Pełny tekst źródła

Streszczenie:

Pycnodysostosis is a rare disease with very few reported cased all over the world. It was first described in 1963 by Maroteaux and Lamy. It is also known as Toulouse-Lautrec syndrome, after a French artist, Henri de Toulouse Lautrec. The affected gene, CTSK, was first isolated in 1996. It is an autosomal recessive osteochondrodysplasia, characterized by disrupted function of osteoclasts. Incidence of this disease is 1.7 per 1 million births with a male to female ratio of 1. 30% cases arise from consanguineous marriages.

Style APA, Harvard, Vancouver, ISO itp.

44

Aparicio Rodríguez, Juan Manuel. "Errores innatos del metabolismo. Reporte de cuatro casos con mucopolisacaridosis tipo I, II y VI en tres familias / Inborn errors of metabolism. Report of four cases with type I, II and VI mucopolysaccharidosis in three families." RIDE Revista Iberoamericana para la Investigación y el Desarrollo Educativo 2, no. 3 (2015): 189. http://dx.doi.org/10.23913/ride.v2i3.41.

Pełny tekst źródła

Streszczenie:

Se reportan cuatro casos de mucopolisacaridosis (MPS) en tres familias. Una de las familias presenta dos hijas afectadas con la variante de síndrome de Hurler, otra familia con el síndrome de Hunter y la ultima familia con un hijo con síndrome de Maroteaux-Lamy. Las MPS son un grupo de trastornos hereditarios causados por la degradación y acumulación de mucopolisacáridos ácidos. Las manifestaciones clínicas son consecuencia del depósito de mucopolisacáridos en varios órganos. En todas las mucopolisacáridosis se han identificado el déficit de la enzima lisosómica degenerativa específica.

Style APA, Harvard, Vancouver, ISO itp.

45

Beck, Michael. "Galsulfase: enzyme-replacement therapy for mucopolysaccharidosis Type VI (Maroteaux–Lamy syndrome)." Therapy 3, no. 1 (2006): 9–17. http://dx.doi.org/10.2217/14750708.3.1.9.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

46

Er, Esra, Ebru Canda, Sema Kalkan Uçar, Eser Sözmen, and Mahmut Çoker. "Clinical Experiments in Patients with Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)." Journal of Pediatric Research 3, no. 2 (2016): 82–85. http://dx.doi.org/10.4274/jpr.47450.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

47

Beck, Michael. "Galsulfase: enzyme-replacement therapy for mucopolysaccharidosis Type VI (Maroteaux-Lamy syndrome)." Therapy 3, no. 1 (2006): 9–17. http://dx.doi.org/10.1586/14750708.3.1.9.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

48

Hakim, TajamulAhmad, AjazAhmad Shah, Shahid Farooq, et al. "Multiple dentigerous cysts as a rare presentation of maroteaux– Lamy syndrome." Annals of Maxillofacial Surgery 7, no. 2 (2017): 282. http://dx.doi.org/10.4103/ams.ams_13_17.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

49

Lee, V., CK Li, MMK Shing, et al. "Umbilical cord blood transplantation for Maroteaux–Lamy syndrome (mucopolysaccharidosis type VI)." Bone Marrow Transplantation 26, no. 4 (2000): 455–58. http://dx.doi.org/10.1038/sj.bmt.1702528.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

50

Schwartz, Marc F., Theodore P. Werblin, and W. Richard Green. "Occurrence of Mucopolysaccharide in Corneal Grafts in the Maroteaux???Lamy Syndrome." Cornea 4, no. 1 (1985): 58???66. http://dx.doi.org/10.1097/00003226-198501000-00012.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

Oferujemy zniżki na wszystkie plany premium dla autorów, których prace zostały uwzględnione w tematycznych zestawieniach literatury. Skontaktuj się z nami, aby uzyskać unikalny kod promocyjny!