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Fabry disease

MedGen UID:
8083
Concept ID:
C0002986
Disease or Syndrome
Synonyms: Alpha-galactosidase A deficiency; Anderson-Fabry disease; Angiokeratoma corporis diffusum; Angiokeratoma, diffuse; Atypical Variants of Fabry Disease; Ceramide trihexosidase deficiency; Ceramide trihexosidosis; Classic Fabry Disease; Fabry syndrome; Fabry's disease; GLA deficiency; Hereditary dystopic lipidosis
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Sources: HPO, OMIM, Orphanet
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.
X-linked recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Deficiency of melibiase (124464003); Deficiency of alpha-galactosidase (124464003); Fabry's disease (16652001); Hereditary dystopic lipidosis (16652001); Thesaurismosis lipoidica (16652001); Ceramide trihexosidase deficiency (16652001); Lactosyl ceramidosis (16652001); Ceramide lactoside lipidosis (16652001); alpha-Galactosidase-A deficiency (16652001); Angiokeratoma corporis diffusum universale (16652001); GLA deficiency (16652001); Thesaurismosis hereditaria (16652001); Cardiovasorenal syndrome (16652001); Ruiter-Pompen syndrome (16652001); Anderson-Fabry disease (16652001); Sweeley-Klionsky disease (16652001); Alpha-galactosidase A deficiency (16652001); Angiokeratoma corporis diffusum (16652001); Fabry disease (16652001)
 
Gene (location): GLA (Xq22.1)
OMIM®: 301500
HPO: HP:0001071
Orphanet: ORPHA324

Disease characteristics

Excerpted from the GeneReview: Fabry Disease
Fabry disease results from deficient activity of the enzyme alpha-galactosidase A (α-Gal A) and progressive lysosomal deposition of globotriaosylceramide (GL-3) in cells throughout the body. The classic form, occurring in males with less than 1% α-Gal A enzyme activity, usually has its onset in childhood or adolescence with periodic crises of severe pain in the extremities (acroparesthesia), the appearance of vascular cutaneous lesions (angiokeratomas), sweating abnormalities (anhidrosis, hypohidrosis, and rarely hyperhidrosis), characteristic corneal and lenticular opacities, and proteinuria. Gradual deterioration of renal function to end-stage renal disease (ESRD) usually occurs in men in the third to fifth decade. In middle age, most males successfully treated for ESRD develop cardiac and/or cerebrovascular disease, a major cause of morbidity and mortality. Heterozygous females typically have milder symptoms at a later age of onset than males. Rarely, they may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype. In contrast, males with greater than 1% α-Gal A activity may have: (1) a cardiac variant phenotype that usually presents in the sixth to eighth decade with left ventricular hypertrophy, cardiomyopathy and arrhythmia, and proteinuria, but without ESRD; or (2) a renal variant phenotype, associated with ESRD but without the skin lesions or pain; or (3) cerebrovascular disease presenting as stroke or transient ischemic attack. [from GeneReviews]
Authors:
Atul Mehta  |  Derralynn A Hughes   view full author information

Additional descriptions

From OMIM
Fabry disease is an X-linked inborn error of glycosphingolipid catabolism resulting from deficient or absent activity of the lysosomal enzyme alpha-galactosidase A. This enzymatic defect leads to the systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes of vessels, nerves, tissues, and organs throughout the body (Nance et al., 2006). The disorder is a systemic disease, manifest as progressive renal failure, cardiac disease, cerebrovascular disease, small-fiber peripheral neuropathy, and skin lesions, among other abnormalities (Schiffmann, 2009). An atypical variant of Fabry disease has been reported in which cardiac disease, specifically left ventricular hypertrophy, with or without renal failure, develops in the sixth decade of life. These patients have residual GLA activity (Nakao et al., 1995; Nakao et al., 2003). Although Fabry disease was previously considered to be an X-linked recessive disorder, Wang et al. (2007) found that heterozygous women with Fabry disease experience significant life-threatening conditions requiring medical treatment and intervention. Thus, heterozygous Fabry women should not be called carriers, as this term underestimates the seriousness of the disease in these patients. Clarke (2007) and Schiffmann (2009) provided detailed reviews of Fabry disease.  http://www.omim.org/entry/301500
From GHR
Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys.  https://ghr.nlm.nih.gov/condition/fabry-disease

Clinical features

Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Angina pectoris
MedGen UID:
1929
Concept ID:
C0002962
Sign or Symptom
Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.
Angiokeratoma
MedGen UID:
1542
Concept ID:
C0002985
Neoplastic Process
A vascular lesion defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction. Clinically, angiokeratoma presents as a small, raised, dark-red spot.
Cardiac arrhythmia
MedGen UID:
2039
Concept ID:
C0003811
Finding
A disorder in which there is abnormal electrical activity in the heart.
Corneal dystrophy
MedGen UID:
3619
Concept ID:
C0010036
Disease or Syndrome
An abnormality of the cornea that is characterized by opacity of one or parts of the cornea.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency of loose or watery bowel movements.
Dysautonomia
MedGen UID:
8511
Concept ID:
C0013363
Disease or Syndrome
An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis.
Fasciculations
MedGen UID:
5124
Concept ID:
C0015644
Sign or Symptom
Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
Abnormality of the hand
MedGen UID:
6715
Concept ID:
C0018564
Anatomical Abnormality
Alterations or deviations from normal shape or size which result in a disfigurement of the hand.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.
Hypertension
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
Blood pressure that is abnormally high.
Hyphidrosis
MedGen UID:
43796
Concept ID:
C0020620
Disease or Syndrome
Abnormally diminished capacity to sweat.
Lymphoedema
MedGen UID:
6155
Concept ID:
C0024236
Disease or Syndrome
Edema due to obstruction of lymph vessels or disorders of the lymph nodes.
Muscle cramps
MedGen UID:
7749
Concept ID:
C0026821
Sign or Symptom
A sustained and usually painful contraction of muscle fibers. This may occur as an isolated phenomenon or as a manifestation of an underlying disease process (e.g., UREMIA; HYPOTHYROIDISM; MOTOR NEURON DISEASE; etc.). (From Adams et al., Principles of Neurology, 6th ed, p1398)
Myocardial infarction
MedGen UID:
10150
Concept ID:
C0027051
Disease or Syndrome
Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis.
Nausea
MedGen UID:
10196
Concept ID:
C0027497
Sign or Symptom
A sensation of unease in the stomach together with an urge to vomit.
Paresthesia
MedGen UID:
14619
Concept ID:
C0030554
Disease or Syndrome
Abnormal cutaneous sensations of tingling, numbness, pressure, cold, and warmth that an individual experiences without the presence of a stimulus. It results from functional disturbances of sensory neurons. Causes include peripheral vascular disease, peripheral neuropathy, and nerve damage.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Delayed Puberty
MedGen UID:
46203
Concept ID:
C0034012
Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality.
Tenesmus
MedGen UID:
115914
Concept ID:
C0232726
Sign or Symptom
A repeated, painful urge to defecate without excreting stool.
Obstructive lung disease
MedGen UID:
154671
Concept ID:
C0600260
Disease or Syndrome
Any disorder marked by obstruction of conducting airways of the lung. AIRWAY OBSTRUCTION may be acute, chronic, intermittent, or persistent.
Transient ischemic attack
MedGen UID:
181489
Concept ID:
C0917805
Disease or Syndrome
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Left ventricular septal hypertrophy
MedGen UID:
375564
Concept ID:
C1845019
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Fabry disease in Orphanet.

Conditions with this feature

Aspartylglucosaminuria
MedGen UID:
78649
Concept ID:
C0268225
Disease or Syndrome
Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).
Infantile GM1 gangliosidosis
MedGen UID:
75665
Concept ID:
C0268271
Disease or Syndrome
GLB1-related disorders comprise two phenotypically distinct lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis type IVB (MPS IVB). GM1 gangliosidosis includes phenotypes that range from severe to mild. Type I (infantile) begins before age one year; progressive central nervous system dysfunction leads to spasticity, deafness, blindness, and decerebrate rigidity. Life expectancy is two to three years. Type II can be subdivided into the late-infantile form and juvenile form. Type II, late-infantile form begins between ages one and three years; life expectancy is five to ten years. Type II, juvenile form begins between ages three and ten years with insidious plateauing of motor and cognitive development followed by slow regression. Type II may or may not include skeletal dysplasia. Type III begins in the second to third decade with extrapyramidal signs, gait disturbance, and cardiomyopathy; and can be misidentified as Parkinson disease. Intellectual impairment is common late in the disease; skeletal involvement includes short stature, kyphosis, and scoliosis of varying severity. MPS IVB is characterized by skeletal changes, including short stature and skeletal dysplasia. Affected children have no distinctive clinical findings at birth. The severe form is usually apparent between ages one and three years, and the attenuated form in late childhood or adolescence. In addition to skeletal involvement, significant morbidity can result from respiratory compromise, obstructive sleep apnea, valvular heart disease, hearing impairment, corneal clouding, and spinal cord compression. Intellect is normal unless spinal cord compression leads to central nervous system compromise.
Kanzaki disease
MedGen UID:
324539
Concept ID:
C1836522
Disease or Syndrome
Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder with atypical features. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy (609241); type II, also known as Kanzaki disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder (see 609241) with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).
Angiokeratoma corporis diffusum with arteriovenous fistulas
MedGen UID:
324953
Concept ID:
C1838141
Disease or Syndrome

Professional guidelines

PubMed

ACMG Board of Directors.
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. PMID: 25356965
Meschia JF, Bushnell C, Boden-Albala B, Braun LT, Bravata DM, Chaturvedi S, Creager MA, Eckel RH, Elkind MS, Fornage M, Goldstein LB, Greenberg SM, Horvath SE, Iadecola C, Jauch EC, Moore WS, Wilson JA; American Heart Association Stroke Council.; Council on Cardiovascular and Stroke Nursing.; Council on Clinical Cardiology.; Council on Functional Genomics and Translational Biology.; Council on Hypertension.
Stroke 2014 Dec;45(12):3754-832. Epub 2014 Oct 28 doi: 10.1161/STR.0000000000000046. PMID: 25355838Free PMC Article
Authors/Task Force members., Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, Hagege AA, Lafont A, Limongelli G, Mahrholdt H, McKenna WJ, Mogensen J, Nihoyannopoulos P, Nistri S, Pieper PG, Pieske B, Rapezzi C, Rutten FH, Tillmanns C, Watkins H
Eur Heart J 2014 Oct 14;35(39):2733-79. Epub 2014 Aug 29 doi: 10.1093/eurheartj/ehu284. PMID: 25173338
Laney DA, Bennett RL, Clarke V, Fox A, Hopkin RJ, Johnson J, O'Rourke E, Sims K, Walter G
J Genet Couns 2013 Oct;22(5):555-64. Epub 2013 Jul 17 doi: 10.1007/s10897-013-9613-3. PMID: 23860966
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics.
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. PMID: 23788249Free PMC Article
Gal A, Beck M, Winchester B
Eur J Hum Genet 2012 Feb;20(2) Epub 2011 Sep 21 doi: 10.1038/ejhg.2011.178. PMID: 21934708Free PMC Article
Heart Failure Society of America., Lindenfeld J, Albert NM, Boehmer JP, Collins SP, Ezekowitz JA, Givertz MM, Katz SD, Klapholz M, Moser DK, Rogers JG, Starling RC, Stevenson WG, Tang WH, Teerlink JR, Walsh MN
J Card Fail 2010 Jun;16(6):e1-194. doi: 10.1016/j.cardfail.2010.04.004. PMID: 20610207
Salviati A, Burlina AP, Borsini W
Neurol Sci 2010 Jun;31(3):299-306. Epub 2010 Mar 19 doi: 10.1007/s10072-009-0211-y. PMID: 20300794Free PMC Article
Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, Bultas J, Lee P, Sims K, Brodie SE, Pastores GM, Strotmann JM, Wilcox WR
Genet Med 2006 Sep;8(9):539-48. doi: 10.109701.gim.0000237866.70357.c6. PMID: 16980809
Bennett RL, Hart KA, O'Rourke E, Barranger JA, Johnson J, MacDermot KD, Pastores GM, Steiner RD, Thadhani R
J Genet Couns 2002 Apr;11(2):121-46. PMID: 12735292

External

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Recent clinical studies

Etiology

Madsen CV, Bundgaard H, Rasmussen ÅK, Sørensen SS, Petersen JH, Køber L, Feldt-Rasmussen U, Petri H
Scand Cardiovasc J 2017 Aug;51(4):207-216. Epub 2017 May 25 doi: 10.1080/14017431.2017.1332383. PMID: 28545342
Nagamatsu K, Sekijima Y, Nakamura K, Nakamura K, Hattori K, Ota M, Shimizu Y, Endo F, Ikeda SI
J Hum Genet 2017 Jul;62(7):665-670. Epub 2017 Mar 9 doi: 10.1038/jhg.2017.31. PMID: 28275245
Arends M, Wanner C, Hughes D, Mehta A, Oder D, Watkinson OT, Elliott PM, Linthorst GE, Wijburg FA, Biegstraaten M, Hollak CE
J Am Soc Nephrol 2017 May;28(5):1631-1641. Epub 2016 Dec 15 doi: 10.1681/ASN.2016090964. PMID: 27979989Free PMC Article
Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U
J Med Genet 2017 Apr;54(4):288-296. Epub 2016 Nov 10 doi: 10.1136/jmedgenet-2016-104178. PMID: 27834756Free PMC Article
Hopkin RJ, Cabrera G, Charrow J, Lemay R, Martins AM, Mauer M, Ortiz A, Patel MR, Sims K, Waldek S, Warnock DG, Wilcox WR
Mol Genet Metab 2016 Sep;119(1-2):151-9. Epub 2016 Jun 13 doi: 10.1016/j.ymgme.2016.06.007. PMID: 27510433

Diagnosis

Colon C, Ortolano S, Melcon-Crespo C, Alvarez JV, Lopez-Suarez OE, Couce ML, Fernández-Lorenzo JR
Eur J Pediatr 2017 Aug;176(8):1075-1081. Epub 2017 Jun 23 doi: 10.1007/s00431-017-2950-8. PMID: 28646478Free PMC Article
Madsen CV, Bundgaard H, Rasmussen ÅK, Sørensen SS, Petersen JH, Køber L, Feldt-Rasmussen U, Petri H
Scand Cardiovasc J 2017 Aug;51(4):207-216. Epub 2017 May 25 doi: 10.1080/14017431.2017.1332383. PMID: 28545342
Spada M, Kasper D, Pagliardini V, Biamino E, Giachero S, Porta F
Ital J Pediatr 2017 Jan 3;43(1):1. doi: 10.1186/s13052-016-0320-1. PMID: 28049500Free PMC Article
Silva-Gburek J, Rochford L, Hopkin R, Jefferies JL
Tex Heart Inst J 2016 Dec;43(6):531-533. Epub 2016 Dec 1 doi: 10.14503/THIJ-15-5572. PMID: 28100976Free PMC Article
von der Lippe C, Frich JC, Harris A, Solbrække KN
J Genet Couns 2016 Oct;25(5):1085-92. Epub 2016 Mar 7 doi: 10.1007/s10897-016-9941-1. PMID: 26948256

Therapy

Colon C, Ortolano S, Melcon-Crespo C, Alvarez JV, Lopez-Suarez OE, Couce ML, Fernández-Lorenzo JR
Eur J Pediatr 2017 Aug;176(8):1075-1081. Epub 2017 Jun 23 doi: 10.1007/s00431-017-2950-8. PMID: 28646478Free PMC Article
Madsen CV, Bundgaard H, Rasmussen ÅK, Sørensen SS, Petersen JH, Køber L, Feldt-Rasmussen U, Petri H
Scand Cardiovasc J 2017 Aug;51(4):207-216. Epub 2017 May 25 doi: 10.1080/14017431.2017.1332383. PMID: 28545342
Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U
J Med Genet 2017 Apr;54(4):288-296. Epub 2016 Nov 10 doi: 10.1136/jmedgenet-2016-104178. PMID: 27834756Free PMC Article
Silva-Gburek J, Rochford L, Hopkin R, Jefferies JL
Tex Heart Inst J 2016 Dec;43(6):531-533. Epub 2016 Dec 1 doi: 10.14503/THIJ-15-5572. PMID: 28100976Free PMC Article
Hopkin RJ, Cabrera G, Charrow J, Lemay R, Martins AM, Mauer M, Ortiz A, Patel MR, Sims K, Waldek S, Warnock DG, Wilcox WR
Mol Genet Metab 2016 Sep;119(1-2):151-9. Epub 2016 Jun 13 doi: 10.1016/j.ymgme.2016.06.007. PMID: 27510433

Prognosis

Choi JH, Lee BH, Heo SH, Kim GH, Kim YM, Kim DS, Ko JM, Sohn YB, Hong YH, Lee DH, Kook H, Lim HH, Kim KH, Kim WS, Hong GR, Kim SH, Park SH, Kim CD, Kim SM, Seo JS, Yoo HW
Medicine (Baltimore) 2017 Jul;96(29):e7387. doi: 10.1097/MD.0000000000007387. PMID: 28723748Free PMC Article
Madsen CV, Bundgaard H, Rasmussen ÅK, Sørensen SS, Petersen JH, Køber L, Feldt-Rasmussen U, Petri H
Scand Cardiovasc J 2017 Aug;51(4):207-216. Epub 2017 May 25 doi: 10.1080/14017431.2017.1332383. PMID: 28545342
Arends M, Wanner C, Hughes D, Mehta A, Oder D, Watkinson OT, Elliott PM, Linthorst GE, Wijburg FA, Biegstraaten M, Hollak CE
J Am Soc Nephrol 2017 May;28(5):1631-1641. Epub 2016 Dec 15 doi: 10.1681/ASN.2016090964. PMID: 27979989Free PMC Article
Silva-Gburek J, Rochford L, Hopkin R, Jefferies JL
Tex Heart Inst J 2016 Dec;43(6):531-533. Epub 2016 Dec 1 doi: 10.14503/THIJ-15-5572. PMID: 28100976Free PMC Article
Lidove O, Zeller V, Chicheportiche V, Meyssonnier V, Sené T, Godot S, Ziza JM
Joint Bone Spine 2016 Jul;83(4):421-6. Epub 2015 Dec 14 doi: 10.1016/j.jbspin.2015.11.001. PMID: 26697993

Clinical prediction guides

Madsen CV, Bundgaard H, Rasmussen ÅK, Sørensen SS, Petersen JH, Køber L, Feldt-Rasmussen U, Petri H
Scand Cardiovasc J 2017 Aug;51(4):207-216. Epub 2017 May 25 doi: 10.1080/14017431.2017.1332383. PMID: 28545342
Spada M, Kasper D, Pagliardini V, Biamino E, Giachero S, Porta F
Ital J Pediatr 2017 Jan 3;43(1):1. doi: 10.1186/s13052-016-0320-1. PMID: 28049500Free PMC Article
Silva-Gburek J, Rochford L, Hopkin R, Jefferies JL
Tex Heart Inst J 2016 Dec;43(6):531-533. Epub 2016 Dec 1 doi: 10.14503/THIJ-15-5572. PMID: 28100976Free PMC Article
Hopkin RJ, Cabrera G, Charrow J, Lemay R, Martins AM, Mauer M, Ortiz A, Patel MR, Sims K, Waldek S, Warnock DG, Wilcox WR
Mol Genet Metab 2016 Sep;119(1-2):151-9. Epub 2016 Jun 13 doi: 10.1016/j.ymgme.2016.06.007. PMID: 27510433
Kanai T, Ito T, Odaka J, Saito T, Aoyagi J, Betsui H, Yamagata T
Eur J Pediatr 2016 Mar;175(3):427-31. Epub 2015 Oct 10 doi: 10.1007/s00431-015-2646-x. PMID: 26454753

Recent systematic reviews

Citro V, Cammisa M, Liguori L, Cimmaruta C, Lukas J, Cubellis MV, Andreotti G
Int J Mol Sci 2016 Dec 1;17(12) doi: 10.3390/ijms17122010. PMID: 27916943Free PMC Article
El Dib R, Gomaa H, Carvalho RP, Camargo SE, Bazan R, Barretti P, Barreto FC
Cochrane Database Syst Rev 2016 Jul 25;7:CD006663. doi: 10.1002/14651858.CD006663.pub4. PMID: 27454104
Kozor R, Callaghan F, Tchan M, Hamilton-Craig C, Figtree GA, Grieve SM
J Cardiovasc Magn Reson 2015 Feb 21;17:22. doi: 10.1186/s12968-015-0114-4. PMID: 25890002Free PMC Article
Shi Q, Chen J, Pongmoragot J, Lanthier S, Saposnik G
J Stroke Cerebrovasc Dis 2014 May-Jun;23(5):985-92. Epub 2013 Oct 11 doi: 10.1016/j.jstrokecerebrovasdis.2013.08.010. PMID: 24126289
Bolsover FE, Murphy E, Cipolotti L, Werring DJ, Lachmann RH
J Inherit Metab Dis 2014 Mar;37(2):177-87. Epub 2013 Aug 16 doi: 10.1007/s10545-013-9643-x. PMID: 23949010

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