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Mucopolysaccharidosis, MPS-II(MPS2)

MedGen UID:
7734
Concept ID:
C0026705
Disease or Syndrome
Synonyms: Attenuated MPS (subtype; formerly known as mild MPS II); Hunter Syndrome; Hunter syndrome; I2S deficiency; IDS DEFICIENCY; Iduronate 2-sulfatase deficiency; MPS 2; MPS II; MPS2; Mucopolysaccharidosis Type II; Mucopolysaccharidosis type II; Severe MPS II; SIDS DEFICIENCY; SULFOIDURONATE SULFATASE DEFICIENCY
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
425042
Concept ID:
CN001297
Genetic Function
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
SNOMED CT: Mucopolysaccharidosis, MPS-II (70737009); Hunter's syndrome (70737009); Sulfoiduronidate sulfatase deficiency (70737009); Iduronate 2-sulfatase deficiency (70737009); Hunter syndrome (70737009); Hunter disease (70737009); MPSII - Mucopolysaccharidosis type II (70737009); Mucopolysaccharidosis type II (70737009); MPS 2 - Mucopolysaccharidosis 2 (70737009); Deficiency of iduronate-2-sulfatase (70737009); Iduronate sulfatase deficiency (70737009); Sulfo-iduronate sulfatase deficiency (70737009)
 
Gene: IDS
Cytogenetic location: Xq28
OMIM: 309900

Disease characteristics

Excerpted from the GeneReview: Mucopolysaccharidosis Type II
Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycans (GAG) accumulation. The vast majority of affected individuals are male; on rare occasion carrier females manifest findings. Age of onset, disease severity, and rate of progression vary significantly. In those with severe disease, CNS involvement (manifest primarily by progressive cognitive deterioration), progressive airway disease, and cardiac disease usually result in death in the first or second decade of life. In those with attenuated disease, the CNS is not (or is minimally) affected, although the effect of GAG accumulation on other organ systems may be just as severe as in those who have progressive cognitive decline. Survival into the early adult years with normal intelligence is common in the attenuated form of the disease. Additional findings in both forms of MPS II include: short stature; macrocephaly with or without communicating hydrocephalus; macroglossia; hoarse voice; conductive and sensorineural hearing loss; hepatomegaly and/or splenomegaly; dysostosis multiplex and joint contractures including ankylosis of the temporomandibular joint; spinal stenosis; and carpal tunnel syndrome.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Maurizio Scarpa   view full author information

Additional descriptions

From OMIM
Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).  http://www.omim.org/entry/309900
From GHR
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. At birth, individuals with MPS II do not display any features of the condition. Between ages 2 and 4, they develop full lips, large rounded cheeks, a broad nose, and an enlarged tongue (macroglossia). The vocal cords also enlarge, which results in a deep, hoarse voice. Narrowing of the airway causes frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). As the disorder progresses, individuals need medical assistance to keep their airway open. Many other organs and tissues are affected in MPS II. Individuals with this disorder often have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), an enlarged liver and spleen (hepatosplenomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). People with MPS II usually have thick skin that is not very stretchy. Some affected individuals also have distinctive white skin growths that look like pebbles. Most people with this disorder develop hearing loss and have recurrent ear infections. Some individuals with MPS II develop problems with the light-sensitive tissue in the back of the eye (retina) and have reduced vision. Carpal tunnel syndrome commonly occurs in children with this disorder and is characterized by numbness, tingling, and weakness in the hand and fingers. Narrowing of the spinal canal (spinal stenosis) in the neck can compress and damage the spinal cord. The heart is also significantly affected by MPS II, and many individuals develop heart valve problems. Heart valve abnormalities can cause the heart to become enlarged (ventricular hypertrophy) and can eventually lead to heart failure. Children with MPS II grow steadily until about age 5, and then their growth slows and they develop short stature. Individuals with this condition have joint deformities (contractures) that significantly affect mobility. Most people with MPS II also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Dysostosis multiplex includes a generalized thickening of most long bones, particularly the ribs. There are two types of MPS II, called the severe and mild types. While both types affect many different organs and tissues as described above, people with severe MPS II also experience a decline in intellectual function and a more rapid disease progression. Individuals with the severe form begin to lose basic functional skills (developmentally regress) between the ages of 6 and 8. The life expectancy of these individuals is 10 to 20 years. Individuals with mild MPS II also have a shortened lifespan, but they typically live into adulthood and their intelligence is not affected. Heart disease and airway obstruction are major causes of death in people with both types of MPS II.  http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-ii

Clinical features

Abnormality of the tongue
MedGen UID:
446339
Concept ID:
CN000153
Finding
Any abnormality of the `tongue` (FMA:54640).
Macroglossia
MedGen UID:
504371
Concept ID:
CN000154
Finding
Increased length and width of the tongue.
Abnormality of the teeth
MedGen UID:
424982
Concept ID:
CN000160
Finding
Any abnormality of the `teeth` (FMA:12516).
Thick lower lip vermilion
MedGen UID:
504381
Concept ID:
CN000174
Finding
Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
Thin vermilion border
MedGen UID:
504403
Concept ID:
CN000225
Finding
Reduced width of the \
Mandibular prognathia
MedGen UID:
427817
Concept ID:
CN000285
Finding
Abnormal prominence of the `chin` (FMA:46495) related to `increased length` (PATO:0000573) of the `mandible` (FMA:52748).
Depressed nasal bridge
MedGen UID:
446656
Concept ID:
CN004681
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Papilledema
MedGen UID:
10565
Concept ID:
C0030353
Finding
Swelling around the optic disc, usually due to increased intracranial pressure or pressure on the optic nerve by a tumor.
Ptosis
MedGen UID:
504471
Concept ID:
CN000475
Finding
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Optic atrophy
MedGen UID:
504537
Concept ID:
CN000609
Finding
`Atrophy` (MPATH:127) of the `optic nerve` (FMA:50863). Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Hearing impairment
MedGen UID:
446352
Concept ID:
CN000341
Finding
A `decreased magnitude` (PATO:0002018) of the `sensory perception of sound` (GO:0007605).
Intellectual disability, profound
MedGen UID:
43816
Concept ID:
C0020796
Mental or Behavioral Dysfunction
IQ below 20.
Behavioral abnormality
MedGen UID:
425007
Concept ID:
CN000665
Finding
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Neurodegeneration
MedGen UID:
505144
Concept ID:
CN001976
Finding
Progressive loss of neural cells and tissue.
Obstructive sleep apnea
MedGen UID:
505381
Concept ID:
CN002595
Finding
A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow.
Mandibular prognathia
MedGen UID:
427817
Concept ID:
CN000285
Finding
Abnormal prominence of the `chin` (FMA:46495) related to `increased length` (PATO:0000573) of the `mandible` (FMA:52748).
Pectus excavatum
MedGen UID:
504591
Concept ID:
CN000721
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest (\
Split hand
MedGen UID:
504754
Concept ID:
CN001098
Finding
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Limitation of joint mobility
MedGen UID:
446405
Concept ID:
CN001260
Finding
A reduction in the freedom of movement of one or more joints.
Pes cavus
MedGen UID:
425071
Concept ID:
CN001601
Finding
The presence of an unusually high `plantar arch` (FMA:43942). Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
Abnormality of the hip bone
MedGen UID:
425136
Concept ID:
CN002954
Finding
An abnormality of the `hip bone` (FMA:16585).
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Inguinal hernia
MedGen UID:
504305
Concept ID:
CN000024
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Hepatomegaly
MedGen UID:
505165
Concept ID:
CN002031
Finding
Abnormally `increased size` (PATO:0000586) of the `liver` (FMA:7197).
Intestinal pseudo-obstruction
MedGen UID:
505620
Concept ID:
CN003888
Finding
A functional rather than mechanical obstruction of the intestines.
Hirsutism
MedGen UID:
42461
Concept ID:
C0019572
Finding
A disorder characterized by the presence of excessive hair growth in women in anatomic sites where growth is considered to be a secondary male characteristic (beard, moustache, chest, abdomen), where hair growth is under androgen control.
Thickened skin
MedGen UID:
504710
Concept ID:
CN001007
Finding
Laminar thickening of skin.
Hoarse voice
MedGen UID:
504872
Concept ID:
CN001465
Finding
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
Abnormality of the cardiovascular system
MedGen UID:
427888
Concept ID:
CN001481
Finding
Any abnormality of the `cardiovascular system` (FMA:7161).
Congestive heart failure
MedGen UID:
504881
Concept ID:
CN001488
Finding
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Abnormality of the heart valves
MedGen UID:
446421
Concept ID:
CN001506
Finding
An abnormality of a `Cardiac valve` (FMA:7110).
Laryngomalacia
MedGen UID:
504867
Concept ID:
CN001457
Finding
Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.
Asthma
MedGen UID:
505101
Concept ID:
CN001900
Finding
Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
Tracheobronchomalacia
MedGen UID:
505354
Concept ID:
CN002520
Finding
Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways.
Obstructive sleep apnea
MedGen UID:
505381
Concept ID:
CN002595
Finding
A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Asthma
MedGen UID:
505101
Concept ID:
CN001900
Finding
Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
Abnormality of immune system physiology
MedGen UID:
451258
Concept ID:
CN116711
Finding
A functional abnormality of the `immune system` (FMA:9825).
Macroglossia
MedGen UID:
504371
Concept ID:
CN000154
Finding
Increased length and width of the tongue.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Inguinal hernia
MedGen UID:
504305
Concept ID:
CN000024
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.

Term Hierarchy

Professional guidelines

PubMed

Beck M, Wijburg FA, Gal A
Eur J Hum Genet 2012 Jan;20(1) Epub 2011 Aug 24 doi: 10.1038/ejhg.2011.143. [Epub ahead of print] PMID: 21863056Free PMC Article

Recent clinical studies

Etiology

Barbier AJ, Bielefeld B, Whiteman DA, Natarajan M, Pano A, Amato DA
Mol Genet Metab 2013 Nov;110(3):303-10. Epub 2013 Aug 9 doi: 10.1016/j.ymgme.2013.08.002. [Epub ahead of print] PMID: 23988379
Jin P, Hao JW, Chen K, Dong CS, Yang YB, Mo ZH
Gene 2013 Oct 10;528(2):236-40. Epub 2013 Jul 16 doi: 10.1016/j.gene.2013.06.084. [Epub ahead of print] PMID: 23867855
Malik V, Nichani J, Rothera MP, Wraith JE, Jones SA, Walker R, Bruce IA
Int J Pediatr Otorhinolaryngol 2013 Jul;77(7):1204-8. Epub 2013 May 31 doi: 10.1016/j.ijporl.2013.05.002. [Epub ahead of print] PMID: 23726952
Sohn YB, Cho SY, Park SW, Kim SJ, Ko AR, Kwon EK, Han SJ, Jin DK
Orphanet J Rare Dis 2013 Mar 18;8:42. doi: 10.1186/1750-1172-8-42. [Epub ahead of print] PMID: 23497636Free PMC Article
Tanaka A, Okuyama T, Suzuki Y, Sakai N, Takakura H, Sawada T, Tanaka T, Otomo T, Ohashi T, Ishige-Wada M, Yabe H, Ohura T, Suzuki N, Kato K, Adachi S, Kobayashi R, Mugishima H, Kato S
Mol Genet Metab 2012 Nov;107(3):513-20. Epub 2012 Sep 7 doi: 10.1016/j.ymgme.2012.09.004. [Epub ahead of print] PMID: 23022072

Diagnosis

Jin P, Hao JW, Chen K, Dong CS, Yang YB, Mo ZH
Gene 2013 Oct 10;528(2):236-40. Epub 2013 Jul 16 doi: 10.1016/j.gene.2013.06.084. [Epub ahead of print] PMID: 23867855
Brusius-Facchin AC, Abrahão L, Schwartz IV, Lourenço CM, Santos ES, Zanetti A, Tomanin R, Scarpa M, Giugliani R, Leistner-Segal S
Gene 2013 Sep 10;526(2):150-4. Epub 2013 May 21 doi: 10.1016/j.gene.2013.05.007. [Epub ahead of print] PMID: 23707223
Bonanni P, Gubernale M, Martinez F, Randazzo G, Milantoni L, Martinuzzi A, Boniver C, Vecchi M, Scarpa M
Dev Med Child Neurol 2012 Oct;54(10):961-4. Epub 2012 Mar 14 doi: 10.1111/j.1469-8749.2012.04228.x. [Epub ahead of print] PMID: 22414067
Jurecka A, Krumina Z, Żuber Z, Różdżyńska-Świątkowska A, Kłoska A, Czartoryska B, Tylki-Szymańska A
Am J Med Genet A 2012 Feb;158A(2):450-4. Epub 2012 Jan 13 doi: 10.1002/ajmg.a.34415. [Epub ahead of print] PMID: 22246721
Scarpa M, Almássy Z, Beck M, Bodamer O, Bruce IA, De Meirleir L, Guffon N, Guillén-Navarro E, Hensman P, Jones S, Kamin W, Kampmann C, Lampe C, Lavery CA, Teles EL, Link B, Lund AM, Malm G, Pitz S, Rothera M, Stewart C, Tylki-Szymańska A, van der Ploeg A, Walker R, Zeman J, Wraith JE; Hunter Syndrome Europena Expert Council
Orphanet J Rare Dis 2011 Nov 7;6:72. doi: 10.1186/1750-1172-6-72. [Epub ahead of print] PMID: 22059643Free PMC Article

Therapy

Barbier AJ, Bielefeld B, Whiteman DA, Natarajan M, Pano A, Amato DA
Mol Genet Metab 2013 Nov;110(3):303-10. Epub 2013 Aug 9 doi: 10.1016/j.ymgme.2013.08.002. [Epub ahead of print] PMID: 23988379
Volpi N, Zampini L, Maccari F, Santoro L, Galeotti F, Galeazzi T, Gabrielli O, Coppa GV
Glycoconj J 2013 Oct;30(7):727-32. Epub 2013 Mar 20 doi: 10.1007/s10719-013-9471-0. [Epub ahead of print] PMID: 23512580
Sohn YB, Cho SY, Park SW, Kim SJ, Ko AR, Kwon EK, Han SJ, Jin DK
Orphanet J Rare Dis 2013 Mar 18;8:42. doi: 10.1186/1750-1172-8-42. [Epub ahead of print] PMID: 23497636Free PMC Article
Tajima G, Sakura N, Kosuga M, Okuyama T, Kobayashi M
Mol Genet Metab 2013 Mar;108(3):172-7. Epub 2013 Jan 9 doi: 10.1016/j.ymgme.2012.12.010. [Epub ahead of print] PMID: 23375472
Tanaka A, Okuyama T, Suzuki Y, Sakai N, Takakura H, Sawada T, Tanaka T, Otomo T, Ohashi T, Ishige-Wada M, Yabe H, Ohura T, Suzuki N, Kato K, Adachi S, Kobayashi R, Mugishima H, Kato S
Mol Genet Metab 2012 Nov;107(3):513-20. Epub 2012 Sep 7 doi: 10.1016/j.ymgme.2012.09.004. [Epub ahead of print] PMID: 23022072

Prognosis

Barbier AJ, Bielefeld B, Whiteman DA, Natarajan M, Pano A, Amato DA
Mol Genet Metab 2013 Nov;110(3):303-10. Epub 2013 Aug 9 doi: 10.1016/j.ymgme.2013.08.002. [Epub ahead of print] PMID: 23988379
Wooten WI 3rd, Muenzer J, Vaughn BV, Muhlebach MS
J Pediatr 2013 Jun;162(6):1210-5. Epub 2013 Jan 8 doi: 10.1016/j.jpeds.2012.11.039. [Epub ahead of print] PMID: 23305961Free PMC Article
Bonanni P, Gubernale M, Martinez F, Randazzo G, Milantoni L, Martinuzzi A, Boniver C, Vecchi M, Scarpa M
Dev Med Child Neurol 2012 Oct;54(10):961-4. Epub 2012 Mar 14 doi: 10.1111/j.1469-8749.2012.04228.x. [Epub ahead of print] PMID: 22414067
Tylki-Szymanska A, Jurecka A, Zuber Z, Rozdzynska A, Marucha J, Czartoryska B
Acta Paediatr 2012 Jan;101(1):e42-7. Epub 2011 Jun 29 doi: 10.1111/j.1651-2227.2011.02385.x. [Epub ahead of print] PMID: 21672014
Wei X, Jin F, Ye Y, Xu C, Qu N, Ju X, Yi X
Clin Chim Acta 2011 Nov 20;412(23-24):2340-2. Epub 2011 Sep 3 doi: 10.1016/j.cca.2011.08.031. [Epub ahead of print] PMID: 21910981

Clinical prediction guides

Barbier AJ, Bielefeld B, Whiteman DA, Natarajan M, Pano A, Amato DA
Mol Genet Metab 2013 Nov;110(3):303-10. Epub 2013 Aug 9 doi: 10.1016/j.ymgme.2013.08.002. [Epub ahead of print] PMID: 23988379
Volpi N, Zampini L, Maccari F, Santoro L, Galeotti F, Galeazzi T, Gabrielli O, Coppa GV
Glycoconj J 2013 Oct;30(7):727-32. Epub 2013 Mar 20 doi: 10.1007/s10719-013-9471-0. [Epub ahead of print] PMID: 23512580
Wooten WI 3rd, Muenzer J, Vaughn BV, Muhlebach MS
J Pediatr 2013 Jun;162(6):1210-5. Epub 2013 Jan 8 doi: 10.1016/j.jpeds.2012.11.039. [Epub ahead of print] PMID: 23305961Free PMC Article
Tanaka A, Okuyama T, Suzuki Y, Sakai N, Takakura H, Sawada T, Tanaka T, Otomo T, Ohashi T, Ishige-Wada M, Yabe H, Ohura T, Suzuki N, Kato K, Adachi S, Kobayashi R, Mugishima H, Kato S
Mol Genet Metab 2012 Nov;107(3):513-20. Epub 2012 Sep 7 doi: 10.1016/j.ymgme.2012.09.004. [Epub ahead of print] PMID: 23022072
Wei X, Jin F, Ye Y, Xu C, Qu N, Ju X, Yi X
Clin Chim Acta 2011 Nov 20;412(23-24):2340-2. Epub 2011 Sep 3 doi: 10.1016/j.cca.2011.08.031. [Epub ahead of print] PMID: 21910981

Recent systematic reviews

da Silva EM, Strufaldi MW, Andriolo RB, Silva LA
Cochrane Database Syst Rev 2014 Jan 8;1:CD008185. doi: 10.1002/14651858.CD008185.pub3. PMID: 24399699
Malik V, Nichani J, Rothera MP, Wraith JE, Jones SA, Walker R, Bruce IA
Int J Pediatr Otorhinolaryngol 2013 Jul;77(7):1204-8. Epub 2013 May 31 doi: 10.1016/j.ijporl.2013.05.002. [Epub ahead of print] PMID: 23726952
Frawley G, Fuenzalida D, Donath S, Yaplito-Lee J, Peters H
Paediatr Anaesth 2012 Aug;22(8):737-44. Epub 2012 Mar 2 doi: 10.1111/j.1460-9592.2012.03825.x. [Epub ahead of print] PMID: 22381044
da Silva EM, Strufaldi MW, Andriolo RB, Silva LA
Cochrane Database Syst Rev 2011 Nov 9;(11):CD008185. doi: 10.1002/14651858.CD008185.pub2. PMID: 22071845
Scarpa M, Almássy Z, Beck M, Bodamer O, Bruce IA, De Meirleir L, Guffon N, Guillén-Navarro E, Hensman P, Jones S, Kamin W, Kampmann C, Lampe C, Lavery CA, Teles EL, Link B, Lund AM, Malm G, Pitz S, Rothera M, Stewart C, Tylki-Szymańska A, van der Ploeg A, Walker R, Zeman J, Wraith JE; Hunter Syndrome Europena Expert Council
Orphanet J Rare Dis 2011 Nov 7;6:72. doi: 10.1186/1750-1172-6-72. [Epub ahead of print] PMID: 22059643Free PMC Article

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