Some infants with diagnosed Costello Syndrome have been observed to have unique RMD episodes affecting the tongue and other ... a peculiar parasomnia in Costello syndrome". Mov. Disord. 21 (4): 473-8. doi:10.1002/mds.20741. PMID 16250029. Chirakalwasan, N ... To compound the issue, many sufferers are often misdiagnosed as having Restless Legs Syndrome or sleep apnea or some ... It differs from restless legs syndrome in that RMD involves involuntary muscle contractions before and during sleep while ...
... syndrome Hereditary gingival fibromatosis type 1 Neurofibromatosis type 1 Noonan syndrome Costello syndrome, Noonan-like Legius ... syndrome, Noonan-like Noonan syndrome with multiple lentigines, formerly called LEOPARD syndrome, Noonan-like Schuhmacher AJ, ... Guerra C, Sauzeau V, Cañamero M, Bustelo XR, Barbacid M (June 2008). "A mouse model for Costello syndrome reveals an Ang II- ... Capillary malformation-AV malformation syndrome Autoimmune lymphoproliferative syndrome Cardiofaciocutaneous ...
Beckwith-Wiedemann syndrome, Costello syndrome, Noonan syndrome, and DICER1 syndrome. There are multiple genetic lesions ... Cohen, P. R.; Kurzrock, R. (1995-01-01). "Miscellaneous genodermatoses: Beckwith-Wiedemann syndrome, Birt-Hogg-Dube syndrome, ... "Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol". American Journal of ... Risk factors that increase the likelihood of this cancer include inherited disorders such as Li-Fraumeni syndrome, ...
At least five inherited mutations in the HRAS gene have been identified in people with Costello syndrome. Each of these ... GeneReviews/NCBI/NIH/UW entry on Costello syndrome HRAS+protein,+human at the US National Library of Medicine Medical Subject ... Researchers are uncertain how mutations in the HRAS gene cause the other features of Costello syndrome (such as mental ... The mutations responsible for Costello syndrome lead to the production of an HRAS protein that is permanently active. Instead ...
... and Costello syndrome. Nonetheless, some genes may have helped modern human Europeans adapt to the environment; the Val92Met ...
... syndrome; neurocardiofacial-cutaneous syndromes such as Noonan syndrome, Costello syndrome, Gorlin Syndrome, (also known as ... schinzel syndrome Robinow syndrome Simpson-golabi-behmel syndrome Sotos syndrome Sturge-Weber syndrome Weaver syndrome ... dysostosis Costello syndrome Encephalocraniocutaneous lipomatosis FG syndrome Hailermann-streiff syndrome Hydolethalus syndrome ... overgrowth syndromes such as Sotos syndrome (cerebral gigantism), Weaver syndrome, Simpson-Golabi-Behmel syndrome (bulldog ...
"11q deletion syndrome". www.socialstyrelsen.se (in Swedish).. *^ "11q deletion syndrome". www.socialstyrelsen.se (in Swedish). ... "11q deletion syndrome". www.socialstyrelsen.se (in Swedish).. *^ "Jacobsen syndrome , Genetic and Rare Diseases Information ... Research shows that almost 88.5% of people with Jacobsen syndrome have a bleeding disorder called Paris-Trousseau syndrome.[3] ... "11q deletion syndrome". www.socialstyrelsen.se (in Swedish).. *^ Favier, Remi; Akshoomoff, Natacha; Mattson, Sarah; Grossfeld, ...
Hong, Matthew K.; Kong, Jennifer; Namdarian, Benjamin; Longano, Anthony; Grummet, Jeremy; Hovens, Christopher M.; Costello, ... A paraneoplastic syndrome is a syndrome (a set of signs and symptoms) that is the consequence of cancer in the body, but unlike ... The following diseases manifest by means of endocrine dysfunction: Cushing syndrome, syndrome of inappropriate antidiuretic ... and other syndromes). A vast majority of prostate cancer cases (over 70%) document paraneoplastic syndrome as a major clinical ...
"Charcot-Marie-Tooth Syndrome. CMT information". Patient.. *^ Carter, Gregory T.; Jensen, Mark P.; Galer, Bradley S.; Kraft, ... Stiff-man and Charcot-Marie-Tooth syndromes". The American Journal of the Medical Sciences. 313 (1): 70-73. doi:10.1097/ ... Costello syndrome. *KRAS *Noonan syndrome 3. *KRAS Cardiofaciocutaneous syndrome. *RAB: RAB7 *Charcot-Marie-Tooth disease ... as well as postherpetic neuralgia and complex regional pain syndrome, among other diseases.[9] ...
It is often associated with Cowden syndrome.[1] It was described by Jacques Jean Lhermitte and P. Duclos in 1920.[2] ... Like cowden syndrome, patients with Lhermitte-Duclos disease often have mutations in enzymes involved in the Akt/PKB signaling ... Patients with Lhermitte-Duclos disease and Cowden's syndrome may also have multiple growths on skin. The tumor, though benign, ... Costello syndrome. *KRAS *Noonan syndrome 3. *KRAS Cardiofaciocutaneous syndrome. *RAB: RAB7 *Charcot-Marie-Tooth disease ...
Rapp-Hodgkin syndrome/Hay-Wells syndrome/Ectrodactyly-ectodermal dysplasia-cleft syndrome 3/Limb-mammary syndrome/OFC8 ... This syndrome is also known as the sarcoma, breast, leukaemia and adrenal gland (SBLA) syndrome. ... OSLAM syndrome. References[edit]. *^ Custódio G; et al. (July 2013). "Impact of neonatal screening and surveillance for the ... Li-Fraumeni syndrome (LFS) is relatively rare;[clarification needed] as of 2011, cases had been reported in more than 500 ...
Costello syndrome, Keutel syndrome, nasodigitoacoustic syndrome (Keipert syndrome), Noonan syndrome or Williams syndrome.[ ... For peripheral pulmonary artery stenosis in Alagille syndrome". Tex Heart Inst J. 25 (1): 79-82. PMC 325508. PMID 9566070. v t ... Peripheral pulmonary artery stenosis may occur as an isolated event or in association with Alagille syndrome, Berardinelli-Seip ...
The Coffin-Lowry Syndrome Foundation[10] acts as a clearinghouse for information on Coffin-Lowry syndrome and hosts a forum for ... The syndrome is caused by mutations in the RPS6KA3 gene.[1] This gene is located on the short arm of the X chromosome (Xp22.2 ... "Coffin-Lowry Syndrome Foundation". National Institute of Neurological Disorders and Stroke. Retrieved 29 February 2016.. ... Coffin-Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes ...
... is caused by a mutation in the EVC gene, as well as by a mutation in a nonhomologous gene, EVC2, ... Alström syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.[5] ... Ellis-van Creveld syndrome (also called chondroectodermal dysplasia or mesoectodermal dysplasia but see 'Nomenclature' section ... Ellis-van Creveld syndrome often is the result of founder effects in isolated human populations, such as the Amish and some ...
Costello syndrome - Like CFC syndrome, Costello syndrome has overlapping features with Noonan's Syndrome. However, the ... Other RASopathies Watson syndrome - Watson Syndrome has a number of similar characteristics with Noonan's Syndrome such as ... Cardiofaciocutaneous (CFC) syndrome - CFC syndrome is very similar to Noonan's Syndrome due to similar cardiac and lymphatic ... While Turner syndrome has similarities with renal anomalies and developmental delay, Turner syndrome is only found in females ...
... , also called faciocutaneoskeletal syndrome or FCS syndrome, is a rare genetic disorder that affects many ... The test for the mutation in cancer tumors can also be used to test children for Costello syndrome. Costello syndrome is ... the Costello Syndrome Professional Advisory Board was asked about its use in Costello Syndrome. Research into the effects of ... members of the Costello Syndrome Family Network discussed the possibility of FTIs helping children with Costello syndrome. Mark ...
Costello syndrome is caused by mutations in HRAS. Mutations that cause Noonan syndrome have been found in PTPN11 and SOS1. The ... Costello and Noonan syndrome are similar to CFC and their phenotypic overlap may be due to the biochemical relationship of the ... Cardiofaciocutaneous (CFC) syndrome is an extremely rare genetic disorder. It is characterized by the following: Distinctive ... Genes that are mutated in all three of these syndromes encode proteins that function in the MAP kinase pathway. Mutations that ...
Fraison, E; Kostova, E; Moran, LJ; Bilal, S; Ee, CC; Venetis, C; Costello, MF (13 August 2020). "Metformin versus the combined ... Mortada R, Williams T (2015). "Metabolic Syndrome: Polycystic Ovary Syndrome". FP Essentials (Review). 435: 30-42. PMID ... Other names for this syndrome include polycystic ovarian syndrome, polycystic ovary disease, functional ovarian ... type 2 diabetes and metabolic syndrome in polycystic ovary syndrome: a systematic review and meta-analysis". Hum. Reprod. ...
Gurd, J. M.; Coleman, J. S.; Costello, A.; Marshall, J. C. (2001). "Organic or functional? A new case of foreign accent ... Since this syndrome is very rare, it takes a multidisciplinary team to evaluate the syndrome and diagnose it, including speech- ... "Foreign Accent Syndrome Support". Retrieved 24 October 2013. Naidoo, Raveeni (1 July 2008). "A Case of Foreign Accent Syndrome ... Special issue on foreign accent syndrome. "Foreign Accent Syndrome Support" - site created by researchers at University of ...
Misso, M. L.; Costello, M. F.; Garrubba, M.; Wong, J.; Hart, R.; Rombauts, L.; Melder, A. M.; Norman, R. J.; Teede, H. J. (2012 ... Polycystic ovary syndrome causes more than 75% of cases of anovulatory infertility. Not all women with PCOS have difficulty ... ISBN 978-0-07-149868-5. Qiao, J.; Feng, H. L. (2010). "Extra- and intra-ovarian factors in polycystic ovary syndrome: impact on ... Tang, T.; Balen, A. H. (2012). "Use of metformin for women with polycystic ovary syndrome". Human Reproduction Update. 19 (1): ...
Leopard syndrome (LS) and Noonan syndrome (NS). Other members are Costello syndrome (CS), cardio-facio-cutaneous syndrome (CFC ... Neuro-cardio-facial-cutaneous-syndromes (NCFC), (also referred to as neuro-craniofacial-cardiac syndromes) is a group of ... These four parts are the common denominator for the syndromes, but are mostly accompanied by disturbances in other parts of the ... The two most common syndromes under this "umbrella" are: ... it has been observed that NCFC syndromes result from de novo ...
... which include Costello Syndrome, Noonan Syndrome, and Cardiofaciocutaneous syndrome. The RASopathies also present with skeletal ... in the past NF-1 was in some cases confused with Legius syndrome, another syndrome with vaguely similar symptoms, including ... A condition with a separate gene mutation but similar Café au lait spots is Legius syndrome which has a mutation on the SPRED1 ... NF-1 is a microdeletion syndrome caused by a mutation of a gene located on chromosomal segment 17q11.2 on the long arm of ...
... steal Costeff syndrome Costello syndrome Cotard delusion Cotard's Syndrome Cotton fever Cowden syndrome Cracked tooth syndrome ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...
... including Noonan syndrome, LEOPARD syndrome, Costello syndrome and cardiofaciocutaneous syndrome in which there is cardiac ... A number of genetic conditions are associated with heart defects, including Down syndrome, Turner syndrome, and Marfan syndrome ... It is called hypoplastic left heart syndrome when it affects the left side of the heart and hypoplastic right heart syndrome ... Another T-box gene, TBX1, is involved in velo-cardio-facial syndrome DiGeorge syndrome, the most common deletion which has ...
American Journal of Ophthalmology 135: 483-6; 2003 Susac JO, Murtagh FR, Egan RA, Berger JR, Fox RJ, Galetta S, Costello F, Lee ... Susac's Syndrome - Update. Journal of Neurological Sciences 299(1-2): 86-91; 2010 Susac JO. Susac Syndrome: the triad of ... "Susac Syndrome". Cleveland Clinic. Retrieved 2016-03-01. "Calling All Cases of Susac Syndrome!". NOVEL: Patient Rare Disease ... Hoyt was the first to call the syndrome "Susac syndrome" and later Robert Daroff asked Dr. Susac to write an editorial in ...
Naval Institute Press; ISBN 978-1-59114-198-3 Costello, John (1976) Jutland 1916 with Terry Hughes English, Major J.A. (1979 ... "The Trafalgar Syndrome: Jutland and the Indecisiveness of Naval Warfare". Naval War College Review. XXXII (3). Forczyk, Robert ...
... which assists those with Prader-Willi Syndrome. All songs written by Elvis Costello. "Watching the Detectives", released in the ... "Canadian album certifications - Elvis Costello - My Aim Is True". Music Canada. "British album certifications - Elvis Costello ... Costello called in sick to his day job (as a data entry clerk) to rehearse and record the album with Clover, which was cut in a ... Costello's pose on the cover would become an iconic look for him, with the Buddy Holly glasses and the knees bent inwards ...
Hu who lives on First Street, is a takeoff of the famous Abbott and Costello routine "Who's on First?". Also, there was a ... Chris admits that he had bought into a stereotype of people with Down syndrome being different, and she breaks up with him. ... While the police depend on Peter to help them find someone, Peter stalls by pretending to channel the spirit of Lou Costello; ... At the Creative Arts Awards on August 21, 2010, "Down Syndrome Girl" lost to the USA Network series Monk. At one point, Ellen ...
She shuttled from doctor to doctor for a year before being diagnosed with chronic fatigue syndrome at Johns Hopkins. She said ... In 2015-2016, she reported changes in her health status in an interview with Paul Costello for Stanford Medicine: "Recently, ... video and partial transcript Parker-Pope, Tara (February 4, 2011). "An Author Escapes From Chronic Fatigue Syndrome". New York ... When asked about her health, she reported having myalgic encephalomyelitis (M.E.), formerly called Chronic Fatigue Syndrome. ...
related: Costello syndrome. *Kindler syndrome. *Laryngoonychocutaneous syndrome. *Skin fragility syndrome. Ectodermal dysplasia ... DPR is comparable to Naegeli syndrome, both of which are caused by a specific defect in the keratin 14 protein.[4] ... "Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by ...
Endocrine complications of the Acquired Immunodeficiency Syndrome. Archives of Internal Medicine, 1991; 151:1441-1444. A. Levin ... Costello, R. Becker, K. Strauss. An optimized method for routine HLA-B27 screening using flow cytometry. Cytometry, 1994; 18:21 ...
Postablation tubal sterilization syndrome[edit]. Main article: Post-ablation tubal sterilization. Some women who have undergone ... Costello, Caroline; Hillis, Susan D.; Marchbanks, Polly A.; Jamieson, Denise J.; Peterson, Herbert B.; US Collaborative Review ... Hereditary Breast and Ovarian Cancer Syndrome". Obstetrics & Gynecology. 130 (3): e110-e126. doi:10.1097/AOG.0000000000002296. ... "Frequency of symptomatic cornual hematometra and postablation tubal sterilization syndrome after total rollerball endometrial ...
Costello LC (May 2010). "Perspective: is NIH funding the "best science by the best scientists"? A critique of the NIH R01 ... "variants of a human cancer virus called HTLV-III are the primary cause of acquired immunodeficiency syndrome (AIDS)," a new ...
"Severe acute respiratory syndrome coronavirus 2 data hub". NCBI. 21 Mart 2020 tarihinde kaynağından arşivlendi. Erişim tarihi: ... McEnery, Tom; Gough, Ciara; Costello, Richard W (Nisan 2020). "COVID-19: Respiratory support outside the intensive care unit". ... "Outbreak of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2): increased transmission beyond China - fourth update" ... "COVID-19: consider cytokine storm syndromes and immunosuppression". The Lancet. doi:10.1016/S0140-6736(20)30628-0. PMID ...
It is often associated with Cowden syndrome.[1] It was described by Jacques Jean Lhermitte and P. Duclos in 1920.[2] ... Like cowden syndrome, patients with Lhermitte-Duclos disease often have mutations in enzymes involved in the Akt/PKB signaling ... Patients with Lhermitte-Duclos disease and Cowden's syndrome may also have multiple growths on skin. The tumor, though benign, ... Costello syndrome. *KRAS *Noonan syndrome 3. *KRAS Cardiofaciocutaneous syndrome. *RAB: RAB7 *Charcot-Marie-Tooth disease ...
Houlden, B. A.; Costello, B. H.; Sharkey, D.; Fowler, E. V.; Melzer, A.; Ellis, W.; Carrick, F.; Baverstock, P. R.; Elphinstone ... may cause koala immune deficiency syndrome (KIDS) which is similar to AIDS in humans. Prevalence of KoRV in koala populations ...
Behavioural Assessment of Dysexecutive Syndrome (BADS). *Behavior Rating Inventory of Executive Function (BRIEF). Ages 2-90 ... de lacy Costello, & Shallice, 2000; Damasio, 1995; Grafman & Litvan, 1999; Shallice, 1988; Stuss & Benson, 1986; Stuss, ... a group of behaviors now known as dysexecutive syndrome) although they seemed to perform normally when clinical or lab-based ...
... such as Capgras syndrome, De Clerambault syndrome, Othello syndrome, Ganser syndrome, Cotard delusion, and Ekbom syndrome, and ... Costello, Sylvia; Durkin, Shitij; Fairburn, Arthur; Glass, Adesola; Hall, Angel; Huang, Mu-Ming; Hyman, Vijayalakshmi; Jamison ... Bhugra, D.; Munro, A. (1997). Troublesome Disguises: Underdiagnosed Psychiatric Syndromes. Blackwell Science.. [page needed] ... According to DSM-IV, a mental disorder is a psychological syndrome or pattern which is associated with distress (e.g. via a ...
Costello, Rebecca B; Dwyer, Johanna T; Bailey, Regan L (30 May 2016). "Chromium supplements for glycemic control in type 2 ... Maret, Wolfgang (2019). "Chapter 9. Chromium Supplementation in Human Health, Metabolic Syndrome, and Diabetes". In Sigel, ...
Other syndromes that are strongly associated with colorectal cancer include Gardner syndrome,[31] and familial adenomatous ... Evans JP, Sutton PA, Winiarski BK, Fenwick SW, Malik HZ, Vimalachandran D, Tweedle EM, Costello E, Palmer DH, Park BK, ... The diagnosis of Lynch syndrome is made by looking for specific genetic mutations in genes MLH1, MSH2, MSH6, and PMS2.[70] ... Bui QM, Lin D, Ho W (February 2017). "Approach to Lynch Syndrome for the Gastroenterologist". Digestive Diseases and Sciences. ...
This syndrome is characterized by a medication-induced increase in (or compulsive) engagement in non-drug rewards such as ... Baker, Philip RA; Dobbins, Maureen; Soares, Jesus; Francis, Daniel P; Weightman, Alison L; Costello, Joseph T (6 January 2015 ... in incentive-sensitization processes has recently been highlighted by the observation of a dopamine dysregulation syndrome in ...
... , also known as chest wall pain, costosternal syndrome, or costosternal chondrodynia[1] is an acute[2] and often ... Gandhi V, Costello J (August 2012). "Towards evidence based emergency medicine: best BETs from the Manchester Royal Infirmary. ... A factor that may aid in the differentiation of costochondritis from Tietze syndrome is the location of the pain on the sternum ... However, some physicians view costochondritis and Tietze's syndrome as separate disease states due to the absence of costal ...
Costello LC (May 2010). "Perspective: is NIH funding the "best science by the best scientists"? A critique of the NIH R01 ... "variants of a human cancer virus called HTLV-III are the primary cause of acquired immunodeficiency syndrome (AIDS)," a new ...
... including Noonan syndrome, LEOPARD syndrome, Costello syndrome and cardiofaciocutaneous syndrome in which there is cardiac ... A number of genetic conditions are associated with heart defects including Down syndrome, Turner syndrome, and Marfan syndrome. ... It is called hypoplastic left heart syndrome when it affects the left side of the heart and hypoplastic right heart syndrome ... Another T-box gene, TBX1, is involved in velo-cardio-facial syndrome DiGeorge syndrome, the most common deletion which has ...
In March 2019, a woman in Dublin was told her baby was likely to have Edwards syndrome, considered a fatal foetal condition, ... which was granted in the High Court by Justice Declan Costello. On appeal to the Supreme Court, this decision was reversed, on ... Amanda Mellet became pregnant in 2011; however, the foetus was suffering from Edwards syndrome, a fatal condition. She was ... In 2019, a woman attending the National Maternity Hospital was also given a diagnosis of Edwards syndrome. An abortion was ...
Mast cell activation syndrome - has normal number of mast cells, but all the symptoms and in some cases the genetic markers of ... related: Costello syndrome. *Kindler syndrome. *Laryngoonychocutaneous syndrome. *Skin fragility syndrome. Ectodermal dysplasia ... "Mixed organic brain syndrome as a manifestation of systemic mastocytosis". Psychosom Med. 48 (6): 437-47. doi:10.1097/00006842 ...
Maharaj, CH; Costello, JF; McDonnell, JG; Harte, BH; Laffey, JG (2007). "The Airtraq as a rescue airway device following failed ... acute respiratory distress syndrome (ARDS), or near-drowning. Specifically, intubation is considered if the arterial partial ... "Laryngeal mask airway and fiberoptic endoscopy in an infant with Schwartz-Jampel syndrome". Anesthesiology. 82 (2): 605. doi: ...
Maharaj CH, Costello JF, McDonnell JG, Harte BH, Laffey JG (2007). "The Airtraq as a rescue airway device following failed ... "Laryngeal mask airway and fiberoptic endoscopy in an infant with Schwartz-Jampel syndrome". Anesthesiology. 82 (2): 605. doi: ... "Orotracheal intubation through the laryngeal mask airway in paediatric patients with Treacher-Collins syndrome". Paediatr ... a single-use variant that encompasses weights from 1000 grams to morbid obesity and is successful in many airway syndromes as ...
In particular, loss of methyl-CpG-binding protein 2 (MeCP2) has been implicated in Rett syndrome; and methyl-CpG-binding domain ... Costello JF (July 2010). "Conserved role of intragenic DNA methylation in regulating alternative promoters". Nature. 466 (7303 ...
... including fragile X syndrome, Down syndrome, Prader-Willi and Angelman syndromes, and Williams syndrome.[93] ... Tsakanikos E, Costello H, Holt G, Sturmey P, Bouras N (July 2007). "Behaviour management problems as predictors of psychotropic ... Asperger syndrome is closest to autism in signs and likely causes;[15] unlike autism, people with Asperger syndrome usually ... Autism, Asperger syndrome, and PDD-NOS are sometimes called the autistic disorders instead of ASD,[18] whereas autism itself is ...
Werner syndrome helicase Homologous recombination,[28][29] Non-homologous end joining,[30]Base excision repair,[31][32] ... Bloom syndrome BLM (helicase) HRR [53] leukemia, lymphoma, colon, breast, skin, lung, auditory canal, tongue, esophagus, ... related: Costello syndrome. *Kindler syndrome. *Laryngoonychocutaneous syndrome. *Skin fragility syndrome. Ectodermal dysplasia ... Lu L, Jin W, Wang LL (2017). "Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders". Ageing Res. Rev. 33: 30 ...
Siscovick DS, Barringer TA, Fretts AM, Wu JH, Lichtenstein AH, Costello RB, et al. (April 2017). "Omega-3 Polyunsaturated Fatty ... relationship to inflammation in healthy adults and adults exhibiting features of metabolic syndrome". Lipids. 48 (4): 319-32. ... of benefit for lowering inflammation levels in healthy adults and in people with one or more biomarkers of metabolic syndrome.[ ...
related: Costello syndrome. *Kindler syndrome. *Laryngoonychocutaneous syndrome. *Skin fragility syndrome. Ectodermal dysplasia ... Epidermolysis bullosa simplex, dystrophic epidermolysis bullosa, junctional epidermolysis bullosa, Kindler syndrome[1]. ... and Kindler syndrome.[1] The diagnosis is suspected based on symptoms and confirmed by skin biopsy or genetic testing.[5][4] ... "Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources" ...