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Mucopolysaccharidosis type 7(MPS7)

MedGen UID:
43108
Concept ID:
C0085132
Disease or Syndrome
Synonyms: Beta-glucuronidase deficiency; MPS 7; MPS VII; MPS7; Mucopolysaccharidosis type VII; Sly syndrome
SNOMED CT: Deficiency of beta-glucuronidase (124470009); Sly disease (43916004); Mucopolysaccharidosis type VII (43916004); Beta-glucuronidase deficiency (43916004); MPS VII - Mucopolysaccharidosis VII (43916004); Mucopolysaccharidosis, MPS-VII (43916004); Sly syndrome (43916004); GUSB deficiency (43916004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): GUSB (7q11.21)
 
Monarch Initiative: MONDO:0009662
OMIM®: 253220
Orphanet: ORPHA584

Definition

Mucopolysaccharidosis type VII (MPS7) is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved. [from OMIM]

Additional description

From MedlinePlus Genetics
Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a progressive condition that affects most tissues and organs. The severity of MPS VII varies widely among affected individuals.

The most severe cases of MPS VII are characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. Most babies with hydrops fetalis are stillborn or die soon after birth. Other people with MPS VII typically begin to show signs and symptoms of the condition during early childhood. The features of MPS VII include a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), distinctive-looking facial features that are described as "coarse," and a large tongue (macroglossia). Affected individuals also frequently develop an enlarged liver and spleen (hepatosplenomegaly), heart valve abnormalities, and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). The airway may become narrow in some people with MPS VII, leading to frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). The clear covering of the eye (cornea) becomes cloudy, which can cause significant vision loss. People with MPS VII may also have recurrent ear infections and hearing loss. Affected individuals may have developmental delay and progressive intellectual disability, although intelligence is unaffected in some people with this condition.

MPS VII causes various skeletal abnormalities that become more pronounced with age, including short stature and joint deformities (contractures) that affect mobility. Individuals with this condition may also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Carpal tunnel syndrome develops in many children with MPS VII and is characterized by numbness, tingling, and weakness in the hands and fingers. People with MPS VII may develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord.

The life expectancy of individuals with MPS VII depends on the severity of symptoms. Some affected individuals do not survive infancy, while others may live into adolescence or adulthood. Heart disease and airway obstruction are major causes of death in people with MPS VII.  https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-vii

Clinical features

From HPO
Dermatan sulfate excretion in urine
MedGen UID:
343207
Concept ID:
C1854774
Finding
An increased concentration of dermatan sulfate in the urine.
Heparan sulfate excretion in urine
MedGen UID:
340721
Concept ID:
C1854827
Finding
An increased concentration of heparan sulfates in the urine.
Urinary glycosaminoglycan excretion
MedGen UID:
871129
Concept ID:
C4025598
Finding
Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit.
Clubfoot
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Genu valgum
MedGen UID:
154364
Concept ID:
C0576093
Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Acetabular dysplasia
MedGen UID:
233069
Concept ID:
C1328407
Anatomical Abnormality
A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain.
Proximal tapering of metacarpals
MedGen UID:
343199
Concept ID:
C1854749
Finding
Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance.
Metatarsus adductus
MedGen UID:
898667
Concept ID:
C4082169
Anatomical Abnormality
The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.
Abnormal heart valve morphology
MedGen UID:
892837
Concept ID:
C0241654
Finding
Any structural abnormality of a cardiac valve.
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Severe short stature
MedGen UID:
3931
Concept ID:
C0013336
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Protuberant abdomen
MedGen UID:
340750
Concept ID:
C1854928
Finding
A thrusting or bulging out of the abdomen.
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Neurodegeneration
MedGen UID:
17999
Concept ID:
C0027746
Cell or Molecular Dysfunction
Progressive loss of neural cells and tissue.
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Obstructive sleep apnea syndrome
MedGen UID:
101045
Concept ID:
C0520679
Disease or Syndrome
Obstructive sleep apnea is a common, chronic, complex disease associated with serious cardiovascular and neuropsychologic sequelae and with substantial social and economic costs (Palmer et al., 2003).
Poor speech
MedGen UID:
341172
Concept ID:
C1848207
Finding
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Loud snoring
MedGen UID:
1392667
Concept ID:
C2219850
Sign or Symptom
Snoring at a particularly loud or abnormally high volume.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Pectus carinatum
MedGen UID:
57643
Concept ID:
C0158731
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Joint stiffness
MedGen UID:
56403
Concept ID:
C0162298
Sign or Symptom
Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
Diastasis recti
MedGen UID:
113171
Concept ID:
C0221766
Disease or Syndrome
A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).
Flexion contracture
MedGen UID:
83069
Concept ID:
C0333068
Anatomical Abnormality
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.
Accelerated skeletal maturation
MedGen UID:
154262
Concept ID:
C0545053
Finding
An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Narrow greater sciatic notch
MedGen UID:
154353
Concept ID:
C0566888
Finding
A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Odontoid hypoplasia
MedGen UID:
339524
Concept ID:
C1846439
Finding
The odontoid process, or dens, is a bony projection from the axis (C2) upward into the ring of the atlas (C1) at the top of the spine. During embryogenesis, the body of the odontoid derives from the centrum of the atlas and separates from the atlas, fusing with the superior portion of the axis. If the odontoid is hypoplastic or absent, the attachments for the apical and alar ligaments are missing, allowing for excessive rotation of the atlas, craniocervical instability, and possibly cord compression (summary by Stevens et al., 2009).
J-shaped sella turcica
MedGen UID:
381480
Concept ID:
C1854718
Finding
A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull.
Thoracolumbar kyphosis
MedGen UID:
383679
Concept ID:
C1855418
Anatomical Abnormality
Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.
Spatulate ribs
MedGen UID:
344777
Concept ID:
C1856637
Finding
Ribs that are increased in width and taper to the posterior ends.
Limitation of joint mobility
MedGen UID:
341696
Concept ID:
C1857108
Finding
A reduction in the freedom of movement of one or more joints.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Anterior beaking of lumbar vertebrae
MedGen UID:
867183
Concept ID:
C4021541
Anatomical Abnormality
Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine.
Large iliac wing
MedGen UID:
870184
Concept ID:
C4024618
Finding
Increased size of the ilium ala.
Anterior beaking of lower thoracic vertebrae
MedGen UID:
870846
Concept ID:
C4025306
Anatomical Abnormality
Anterior tongue-like protrusions of the lower thoracic vertebral bodies.
Dysostosis multiplex
MedGen UID:
1851010
Concept ID:
C5848292
Disease or Syndrome
Airway obstruction
MedGen UID:
1387
Concept ID:
C0001883
Disease or Syndrome
Obstruction of conducting airways of the lung.
Chronic bronchitis
MedGen UID:
3084
Concept ID:
C0008677
Disease or Syndrome
Chronic inflammation of the bronchi.
Recurrent upper respiratory tract infections
MedGen UID:
154380
Concept ID:
C0581381
Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Recurrent otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Reduced tissue beta-glucuronidase activity
MedGen UID:
1841746
Concept ID:
C5826714
Finding
Concentration or activity of beta-glucuronidase (EC 3.2.1.31) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including cultured fibroblasts and leukocytes.
Macroglossia
MedGen UID:
44236
Concept ID:
C0024421
Disease or Syndrome
Increased length and width of the tongue.
Gingival overgrowth
MedGen UID:
87712
Concept ID:
C0376480
Finding
Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Facial asymmetry
MedGen UID:
266298
Concept ID:
C1306710
Finding
An abnormal difference between the left and right sides of the face.
Widely spaced teeth
MedGen UID:
337093
Concept ID:
C1844813
Finding
Increased spaces (diastemata) between most of the teeth in the same dental arch.
Coarse facial features
MedGen UID:
335284
Concept ID:
C1845847
Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Thick eyebrow
MedGen UID:
377914
Concept ID:
C1853487
Finding
Increased density/number and/or increased diameter of eyebrow hairs.
Hirsutism
MedGen UID:
42461
Concept ID:
C0019572
Disease or Syndrome
Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
Coarse hair
MedGen UID:
124454
Concept ID:
C0277959
Finding
Hair shafts are rough in texture.
Hydrops fetalis
MedGen UID:
6947
Concept ID:
C0020305
Disease or Syndrome
The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
Corneal opacity
MedGen UID:
40485
Concept ID:
C0010038
Finding
A reduction of corneal clarity.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMucopolysaccharidosis type 7
Follow this link to review classifications for Mucopolysaccharidosis type 7 in Orphanet.

Professional guidelines

PubMed

Chang S, Zhan X, Liu Y, Song H, Gong Z, Han L, Maegawa GHB, Gu X, Zhang H
JAMA Netw Open 2024 May 1;7(5):e2410754. doi: 10.1001/jamanetworkopen.2024.10754. PMID: 38739391Free PMC Article
Fillman T, Matteson J, Tang H, Mathur D, Zahedi R, Sen I, Bishop T, Neogi P, Feuchtbaum L, Olney RS, Sciortino S
J Pediatr 2023 Dec;263:113644. Epub 2023 Jul 28 doi: 10.1016/j.jpeds.2023.113644. PMID: 37516270
Arunkumar N, Langan TJ, Stapleton M, Kubaski F, Mason RW, Singh R, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S
J Hum Genet 2020 Jul;65(7):557-567. Epub 2020 Apr 10 doi: 10.1038/s10038-020-0744-8. PMID: 32277174

Recent clinical studies

Etiology

Chang S, Zhan X, Liu Y, Song H, Gong Z, Han L, Maegawa GHB, Gu X, Zhang H
JAMA Netw Open 2024 May 1;7(5):e2410754. doi: 10.1001/jamanetworkopen.2024.10754. PMID: 38739391Free PMC Article
Dias BMC, Lanza FC, Santos JD, Aranda CS, Solé D, Martins AM, Wandalsen GF
Pediatr Pulmonol 2022 Feb;57(2):538-543. Epub 2021 Nov 11 doi: 10.1002/ppul.25750. PMID: 34741588
Lee CL, Lee KS, Chuang CK, Su CH, Chiu HC, Tu RY, Lo YT, Chang YH, Lin HY, Lin SP
Int J Med Sci 2021;18(15):3373-3379. Epub 2021 Jul 25 doi: 10.7150/ijms.61827. PMID: 34522163Free PMC Article
Breyer SR, Vettorazzi E, Schmitz L, Gulati A, von Cossel KM, Spiro A, Rupprecht M, Stuecker R, Muschol NM
J Orthop Surg Res 2021 Mar 19;16(1):201. doi: 10.1186/s13018-021-02340-6. PMID: 33741007Free PMC Article
Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, Mason RW, Giugliani R, Suzuki Y, Orii KE, Orii T, Tomatsu S
Mol Genet Metab 2017 Jul;121(3):227-240. Epub 2017 May 26 doi: 10.1016/j.ymgme.2017.05.016. PMID: 28595941Free PMC Article

Diagnosis

Chang S, Zhan X, Liu Y, Song H, Gong Z, Han L, Maegawa GHB, Gu X, Zhang H
JAMA Netw Open 2024 May 1;7(5):e2410754. doi: 10.1001/jamanetworkopen.2024.10754. PMID: 38739391Free PMC Article
Breyer SR, Vettorazzi E, Schmitz L, Gulati A, von Cossel KM, Spiro A, Rupprecht M, Stuecker R, Muschol NM
J Orthop Surg Res 2021 Mar 19;16(1):201. doi: 10.1186/s13018-021-02340-6. PMID: 33741007Free PMC Article
Khan SA, Tomatsu SC
Int J Mol Sci 2020 Sep 17;21(18) doi: 10.3390/ijms21186812. PMID: 32957425Free PMC Article
Arunkumar N, Langan TJ, Stapleton M, Kubaski F, Mason RW, Singh R, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S
J Hum Genet 2020 Jul;65(7):557-567. Epub 2020 Apr 10 doi: 10.1038/s10038-020-0744-8. PMID: 32277174
Jakobkiewicz-Banecka J, Gabig-Ciminska M, Kloska A, Malinowska M, Piotrowska E, Banecka-Majkutewicz Z, Banecki B, Wegrzyn A, Wegrzyn G
Front Biosci (Landmark Ed) 2016 Jun 1;21(7):1393-409. doi: 10.2741/4463. PMID: 27100513

Therapy

Toscano A, Musumeci O, Sacchini M, Ravaglia S, Siciliano G, Fiumara A, Verrecchia E, Maione M, Gentile J, Fischetto R, Crescimanno G, Taurisano R, Sechi A, Gasperini S, Cianci V, Maggi L, Parini R, Lupica A, Scarpa M
Orphanet J Rare Dis 2023 Oct 27;18(1):338. doi: 10.1186/s13023-023-02919-8. PMID: 37891668Free PMC Article
Brunetti-Pierri N, Ferla R, Ginocchio VM, Rossi A, Fecarotta S, Romano R, Parenti G, Yildiz Y, Zancan S, Pecorella V, Dell'Anno M, Graziano M, Alliegro M, Andria G, Santamaria F, Brunetti-Pierri R, Simonelli F, Nigro V, Vargas M, Servillo G, Borgia F, Soscia E, Gargaro M, Funghini S, Tedesco N, Le Brun PR, Rupar CA, Prasad C, O'Callaghan M, Mitchell JJ, Danos O, Marteau JB, Galimberti S, Valsecchi MG, Veron P, Mingozzi F, Fallarino F, la Marca G, Sivri HS, Auricchio A
NEJM Evid 2022 Jul;1(7):EVIDoa2200052. Epub 2022 Jun 6 doi: 10.1056/EVIDoa2200052. PMID: 38319253
da Silva EM, Strufaldi MW, Andriolo RB, Silva LA
Cochrane Database Syst Rev 2016 Feb 5;2(2):CD008185. doi: 10.1002/14651858.CD008185.pub4. PMID: 26845288Free PMC Article
Haddley K
Drugs Today (Barc) 2014 Jul;50(7):475-83. doi: 10.1358/dot.2014.50.7.2177904. PMID: 25101330
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

Prognosis

Nasrallah F, Oueslati MAA, Hadj-Taieb S, Qurashi NA, Aboalmagd HI, Zidi W, Ferchichi S, Feki M, Sanhaji H
Clin Lab 2023 Nov 1;69(11) doi: 10.7754/Clin.Lab.2023.230330. PMID: 37948494
Lee CL, Lee KS, Chuang CK, Su CH, Chiu HC, Tu RY, Lo YT, Chang YH, Lin HY, Lin SP
Int J Med Sci 2021;18(15):3373-3379. Epub 2021 Jul 25 doi: 10.7150/ijms.61827. PMID: 34522163Free PMC Article
Lavery C, Hendriksz CJ, Jones SA
Orphanet J Rare Dis 2017 Oct 23;12(1):168. doi: 10.1186/s13023-017-0717-y. PMID: 29061114Free PMC Article
Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, Mason RW, Giugliani R, Suzuki Y, Orii KE, Orii T, Tomatsu S
Mol Genet Metab 2017 Jul;121(3):227-240. Epub 2017 May 26 doi: 10.1016/j.ymgme.2017.05.016. PMID: 28595941Free PMC Article
Jakobkiewicz-Banecka J, Gabig-Ciminska M, Kloska A, Malinowska M, Piotrowska E, Banecka-Majkutewicz Z, Banecki B, Wegrzyn A, Wegrzyn G
Front Biosci (Landmark Ed) 2016 Jun 1;21(7):1393-409. doi: 10.2741/4463. PMID: 27100513

Clinical prediction guides

Esposito F, Dell'Aquila F, Rhiel M, Auricchio S, Chmielewski KO, Andrieux G, Ferla R, Horrach PS, Padmanabhan A, Di Cunto R, Notaro S, Santeularia ML, Boerries M, Dell'Anno M, Nusco E, Padula A, Nutarelli S, Cornu TI, Sorrentino NC, Piccolo P, Trapani I, Cathomen T, Auricchio A
Cell Rep Med 2024 Jul 16;5(7):101619. Epub 2024 Jun 18 doi: 10.1016/j.xcrm.2024.101619. PMID: 38897206Free PMC Article
Dias BMC, Lanza FC, Santos JD, Aranda CS, Solé D, Martins AM, Wandalsen GF
Pediatr Pulmonol 2022 Feb;57(2):538-543. Epub 2021 Nov 11 doi: 10.1002/ppul.25750. PMID: 34741588
Breyer SR, Vettorazzi E, Schmitz L, Gulati A, von Cossel KM, Spiro A, Rupprecht M, Stuecker R, Muschol NM
J Orthop Surg Res 2021 Mar 19;16(1):201. doi: 10.1186/s13018-021-02340-6. PMID: 33741007Free PMC Article
Lin HY, Chen MR, Lin SM, Hung CL, Niu DM, Chang TM, Chuang CK, Lin SP
Orphanet J Rare Dis 2019 Jun 13;14(1):140. doi: 10.1186/s13023-019-1112-7. PMID: 31196149Free PMC Article
Jakobkiewicz-Banecka J, Gabig-Ciminska M, Kloska A, Malinowska M, Piotrowska E, Banecka-Majkutewicz Z, Banecki B, Wegrzyn A, Wegrzyn G
Front Biosci (Landmark Ed) 2016 Jun 1;21(7):1393-409. doi: 10.2741/4463. PMID: 27100513

Recent systematic reviews

Galluzzi F, Garavello W
Sleep Med 2024 Apr;116:7-12. Epub 2024 Feb 18 doi: 10.1016/j.sleep.2024.02.030. PMID: 38402648
Kong W, Wu S, Zhang J, Lu C, Ding Y, Meng Y
J Pediatr Endocrinol Metab 2021 Oct 26;34(10):1225-1235. Epub 2021 Jul 19 doi: 10.1515/jpem-2020-0742. PMID: 34271605
da Silva EM, Strufaldi MW, Andriolo RB, Silva LA
Cochrane Database Syst Rev 2016 Feb 5;2(2):CD008185. doi: 10.1002/14651858.CD008185.pub4. PMID: 26845288Free PMC Article
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