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Gaucher disease, type 1

MedGen UID:
409531
Concept ID:
C1961835
Disease or Syndrome
Synonyms: Acid beta-glucosidase deficiency; Gaucher disease, noncerebral juvenile; Gaucher Disease, Type 1; Gaucher disease, type I; Gaucher's disease, type 1; GBA DEFICIENCY; GD 1; GD I; Glucocerebrosidase deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Gaucher's disease, type I (62201009); Noncerebral juvenile Gaucher's disease (62201009); Glucocerebrosidase deficiency type I (62201009)
 
Gene (location): GBA (1q22)
OMIM®: 230800

Definition

Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity. [from GTR]

Additional descriptions

From GeneReviews
Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity.  https://www.ncbi.nlm.nih.gov/books/NBK1269
From OMIM
Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. As a result of this deficiency, there is intracellular accumulation of glucosylceramide (GlcCer, glucosylcerebroside) primarily within cells of mononuclear phagocyte origin, which are the characteristic 'Gaucher cells' identified in most tissues (Jmoudiak and Futerman, 2005). Gaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I, acute neuronopathic type II (230900), and subacute neuronopathic type III (231000). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement. Types II and III have central nervous system involvement and neurologic manifestations (Knudson and Kaplan, 1962; Jmoudiak and Futerman, 2005). All 3 forms of Gaucher disease are caused by mutation in the GBA gene. There are 2 additional phenotypes which may be distinguished: perinatal lethal Gaucher disease (608013), which is a severe form of type II, and Gaucher disease type IIIC (231005), which also has cardiovascular calcifications. See also 610539 for a form of atypical Gaucher disease caused by mutation in the gene encoding saposin C (PSAP; 176801), which is an activator of beta-glucosidase.  http://www.omim.org/entry/230800
From GHR
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features.Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis.Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but it tends to worsen more slowly than type 2.The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth.Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).  https://ghr.nlm.nih.gov/condition/gaucher-disease

Clinical features

Bone pain
MedGen UID:
57489
Concept ID:
C0151825
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle.
Diplopia
MedGen UID:
41600
Concept ID:
C0012569
Finding
A visual symptom in which a single object is perceived by the visual cortex as two objects rather than one. Disorders associated with this condition include REFRACTIVE ERRORS; STRABISMUS; OCULOMOTOR NERVE DISEASES; TROCHLEAR NERVE DISEASES; ABDUCENS NERVE DISEASES; and diseases of the BRAIN STEM and OCCIPITAL LOBE.
Mydriasis
MedGen UID:
10145
Concept ID:
C0026961
Sign or Symptom
Abnormal dilatation of the iris.
Macular atrophy
MedGen UID:
266204
Concept ID:
C1288283
Disease or Syndrome
Benign DERMATOSIS caused by a loss of dermal ELASTIC TISSUE resulting in localized sac-like areas of flaccid skin. It can be either primary (idiopathic) or secondary to other skin conditions, PENICILLAMINE use, or premature birth.
Multiple myeloma
MedGen UID:
10122
Concept ID:
C0026764
Neoplastic Process
Multiple myeloma is a neoplastic plasma cell disorder characterized by clonal proliferation of malignant plasma cells in the bone marrow microenvironment, monoclonal protein in the blood or urine, and associated organ dysfunction (Palumbo and Anderson, 2011).
Erlenmeyer flask deformity of the femurs
MedGen UID:
383796
Concept ID:
C1855895
Finding
Flaring of distal femur.
Primary pulmonary hypertension
MedGen UID:
57749
Concept ID:
C0152171
Disease or Syndrome
Pulmonary arterial hypertension (PAH) is characterized by widespread obstruction and obliteration of the smallest pulmonary arteries. When a sufficient number of vessels are occluded, the resistance to blood flow through the lungs increases, and the right ventricle attempts to compensate by generating higher pressure to maintain pulmonary blood flow. When the right ventricle can no longer compensate for the increased resistance, progressive heart failure ensues. Initial symptoms include dyspnea (60%), fatigue (19%), syncope (8%), chest pain (7%), palpitations (5%), and leg edema (3%). All ages are affected, but the mean age at diagnosis is 36 years. Mean survival after diagnosis is 2.8 years; current therapy does improve clinical function but has modest effect on survival. The term heritable PAH (HPAH) includes familial PAH (PAH that occurs in two or more family members) and simplex PAH (i.e., a single occurrence in a family) when a pathogenic variant has been identified. Most heritable PAH (75%) is caused by a pathogenic variant in BMPR2; pathogenic variants in other genes (i.e., ACVRL1, KCNK3, CAV1, SMAD9, BMPR1B,) are considerably less common (1-3%). HPAH has identical symptoms, signs, and histology as PAH of unknown cause. The time from onset of symptoms to diagnosis may be shorter in individuals with familial PAH, possibly because of familial awareness of the disease. Three retrospective studies suggest that persons with PAH who have a BMPR2 pathogenic variant exhibit more severe disease.
Constipation
MedGen UID:
1101
Concept ID:
C0009806
Sign or Symptom
Infrequent or difficult evacuation of FECES. These symptoms are associated with a variety of causes, including low DIETARY FIBER intake, emotional or nervous disturbances, systemic and structural disorders, drug-induced aggravation, and infections.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
A symptom referring to difficulty in swallowing. It may be observed in patients with stroke, motor neuron disorders, cancer of the throat or mouth, head and neck injuries, Parkinson disease, and multiple sclerosis.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormal enlargement of the liver.
Hypersplenism
MedGen UID:
9372
Concept ID:
C0020532
Disease or Syndrome
A malfunctioning of the spleen in which it prematurely destroys red blood cells.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal enlargement of the spleen.
Cerebral palsy
MedGen UID:
854
Concept ID:
C0007789
Disease or Syndrome
A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
A symptom referring to difficulty in swallowing. It may be observed in patients with stroke, motor neuron disorders, cancer of the throat or mouth, head and neck injuries, Parkinson disease, and multiple sclerosis.
Respiratory paralysis
MedGen UID:
19748
Concept ID:
C0035232
Finding
Complete or severe weakness of the muscles of respiration. This condition may be associated with MOTOR NEURON DISEASES; PERIPHERAL NERVE DISEASES; NEUROMUSCULAR JUNCTION DISEASES; SPINAL CORD DISEASES; injury to the PHRENIC NERVE; and other disorders.
Cranial nerve paralysis
MedGen UID:
57717
Concept ID:
C0151311
Disease or Syndrome
Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness.
Bone pain
MedGen UID:
57489
Concept ID:
C0151825
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Bleeding from the nose.
Multiple myeloma
MedGen UID:
10122
Concept ID:
C0026764
Neoplastic Process
Multiple myeloma is a neoplastic plasma cell disorder characterized by clonal proliferation of malignant plasma cells in the bone marrow microenvironment, monoclonal protein in the blood or urine, and associated organ dysfunction (Palumbo and Anderson, 2011).
Pancytopenia
MedGen UID:
18281
Concept ID:
C0030312
Disease or Syndrome
A finding of low numbers of red and white blood cells and platelets in the peripheral blood.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood.
Anemia
MedGen UID:
56401
Concept ID:
C0162119
Finding
A laboratory test result demonstrating decreased levels of hemoglobin in a biological specimen.
Dyspnea
MedGen UID:
3938
Concept ID:
C0013404
Sign or Symptom
Difficult or labored breathing.
Primary pulmonary hypertension
MedGen UID:
57749
Concept ID:
C0152171
Disease or Syndrome
Pulmonary arterial hypertension (PAH) is characterized by widespread obstruction and obliteration of the smallest pulmonary arteries. When a sufficient number of vessels are occluded, the resistance to blood flow through the lungs increases, and the right ventricle attempts to compensate by generating higher pressure to maintain pulmonary blood flow. When the right ventricle can no longer compensate for the increased resistance, progressive heart failure ensues. Initial symptoms include dyspnea (60%), fatigue (19%), syncope (8%), chest pain (7%), palpitations (5%), and leg edema (3%). All ages are affected, but the mean age at diagnosis is 36 years. Mean survival after diagnosis is 2.8 years; current therapy does improve clinical function but has modest effect on survival. The term heritable PAH (HPAH) includes familial PAH (PAH that occurs in two or more family members) and simplex PAH (i.e., a single occurrence in a family) when a pathogenic variant has been identified. Most heritable PAH (75%) is caused by a pathogenic variant in BMPR2; pathogenic variants in other genes (i.e., ACVRL1, KCNK3, CAV1, SMAD9, BMPR1B,) are considerably less common (1-3%). HPAH has identical symptoms, signs, and histology as PAH of unknown cause. The time from onset of symptoms to diagnosis may be shorter in individuals with familial PAH, possibly because of familial awareness of the disease. Three retrospective studies suggest that persons with PAH who have a BMPR2 pathogenic variant exhibit more severe disease.
Interstitial pulmonary abnormality
MedGen UID:
60064
Concept ID:
C0206062
Disease or Syndrome
A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features.
Pulmonary infiltrates
MedGen UID:
116009
Concept ID:
C0235896
Finding
A finding indicating the presence of an inflammatory or neoplastic cellular infiltrate in the lung parenchyma.
Respiratory insufficiency due to muscle weakness
MedGen UID:
812797
Concept ID:
C3806467
Finding
Respiratory paralysis
MedGen UID:
19748
Concept ID:
C0035232
Finding
Complete or severe weakness of the muscles of respiration. This condition may be associated with MOTOR NEURON DISEASES; PERIPHERAL NERVE DISEASES; NEUROMUSCULAR JUNCTION DISEASES; SPINAL CORD DISEASES; injury to the PHRENIC NERVE; and other disorders.
Respiratory insufficiency due to muscle weakness
MedGen UID:
812797
Concept ID:
C3806467
Finding
Hypersplenism
MedGen UID:
9372
Concept ID:
C0020532
Disease or Syndrome
A malfunctioning of the spleen in which it prematurely destroys red blood cells.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal enlargement of the spleen.
Pathologic fracture
MedGen UID:
42095
Concept ID:
C0016663
Pathologic Function
A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.
Aseptic necrosis
MedGen UID:
508355
Concept ID:
C0085660
Pathologic Function
A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.
Bone pain
MedGen UID:
57489
Concept ID:
C0151825
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
Vertebral collapse
MedGen UID:
98379
Concept ID:
C0410550
Disease or Syndrome
Erlenmeyer flask deformity of the femurs
MedGen UID:
383796
Concept ID:
C1855895
Finding
Flaring of distal femur.
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Bleeding from the nose.
Hyperpigmentation of the skin
MedGen UID:
57992
Concept ID:
C0162834
Pathologic Function
A darkening of the skin related to an increase in melanin production and deposition.

Professional guidelines

PubMed

ACOG Committee on Genetics.
Obstet Gynecol 2009 Oct;114(4):950-3. doi: 10.1097/AOG.0b013e3181bd12f4. PMID: 19888064
Gross SJ, Pletcher BA, Monaghan KG; Professional Practice and Guidelines Committee.
Genet Med 2008 Jan;10(1):54-6. doi: 10.1097/GIM.0b013e31815f247c. PMID: 18197057Free PMC Article

Recent clinical studies

Etiology

Pandey MK, Burrow TA, Rani R, Martin LJ, Witte D, Setchell KD, Mckay MA, Magnusen AF, Zhang W, Liou B, Köhl J, Grabowski GA
Nature 2017 Mar 2;543(7643):108-112. Epub 2017 Feb 22 doi: 10.1038/nature21368. PMID: 28225753
Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, Levade T, Astudillo L, Serratrice J, Brassier A, Rose C, Billette de Villemeur T, Berger MG
Int J Mol Sci 2017 Feb 17;18(2) doi: 10.3390/ijms18020441. PMID: 28218669Free PMC Article
Reihani N, Arlet JB, Dussiot M, de Villemeur TB, Belmatoug N, Rose C, Colin-Aronovicz Y, Hermine O, Le Van Kim C, Franco M
Haematologica 2016 Dec;101(12):1489-1498. Epub 2016 Jul 28 doi: 10.3324/haematol.2016.147546. PMID: 27470603Free PMC Article
Aflaki E, Borger DK, Moaven N, Stubblefield BK, Rogers SA, Patnaik S, Schoenen FJ, Westbroek W, Zheng W, Sullivan P, Fujiwara H, Sidhu R, Khaliq ZM, Lopez GJ, Goldstein DS, Ory DS, Marugan J, Sidransky E
J Neurosci 2016 Jul 13;36(28):7441-52. doi: 10.1523/JNEUROSCI.0636-16.2016. PMID: 27413154Free PMC Article
Jung O, Patnaik S, Marugan J, Sidransky E, Westbroek W
Expert Rev Proteomics 2016 May;13(5):471-9. Epub 2016 Apr 21 doi: 10.1080/14789450.2016.1174583. PMID: 27098312Free PMC Article

Diagnosis

Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, Levade T, Astudillo L, Serratrice J, Brassier A, Rose C, Billette de Villemeur T, Berger MG
Int J Mol Sci 2017 Feb 17;18(2) doi: 10.3390/ijms18020441. PMID: 28218669Free PMC Article
Watanabe A, Gekka T, Arai K, Tsuneoka H
Ophthalmic Genet 2017 May-Jun;38(3):273-276. Epub 2016 Jul 18 doi: 10.1080/13816810.2016.1193878. PMID: 27429014
Drugan C, Drugan TC, Miron N, Grigorescu-Sido P, Naşcu I, Cătană C
Hematology 2016 Jul;21(6):379-86. Epub 2016 Feb 24 doi: 10.1080/10245332.2016.1144336. PMID: 26903266
Motta I, Filocamo M, Poggiali E, Stroppiano M, Dragani A, Consonni D, Barcellini W, Gaidano G, Facchini L, Specchia G, Cappellini MD; Splenomegaly Gaucher Disease study group.
Eur J Haematol 2016 Apr;96(4):352-9. Epub 2015 Jun 11 doi: 10.1111/ejh.12596. PMID: 26033455
Ioscovich A, Fadeev D, Kenet G, Naamad M, Schtrechman G, Zimran A, Elstein D
Clin Appl Thromb Hemost 2016 Oct;22(7):693-7. Epub 2015 Mar 27 doi: 10.1177/1076029615578165. PMID: 25818635

Therapy

Ceravolo F, Grisolia M, Sestito S, Falvo F, Moricca MT, Concolino D
J Med Case Rep 2017 Jan 20;11(1):19. doi: 10.1186/s13256-016-1147-5. PMID: 28103924Free PMC Article
El-Beshlawy A, Tylki-Szymanska A, Vellodi A, Belmatoug N, Grabowski GA, Kolodny EH, Batista JL, Cox GF, Mistry PK
Mol Genet Metab 2017 Jan - Feb;120(1-2):47-56. Epub 2016 Dec 6 doi: 10.1016/j.ymgme.2016.12.001. PMID: 28040394
Mistry PK, Lopez G, Schiffmann R, Barton NW, Weinreb NJ, Sidransky E
Mol Genet Metab 2017 Jan - Feb;120(1-2):8-21. Epub 2016 Nov 17 doi: 10.1016/j.ymgme.2016.11.006. PMID: 27916601Free PMC Article
Belmatoug N, Di Rocco M, Fraga C, Giraldo P, Hughes D, Lukina E, Maison-Blanche P, Merkel M, Niederau C, Plӧckinger U, Richter J, Stulnig TM, Vom Dahl S, Cox TM
Eur J Intern Med 2017 Jan;37:25-32. Epub 2016 Aug 10 doi: 10.1016/j.ejim.2016.07.011. PMID: 27522145
Giuffrida G, Lombardo R, Di Francesco E, Parrinello L, Di Raimondo F, Fiumara A
J Med Case Rep 2016 Nov 8;10(1):315. doi: 10.1186/s13256-016-1060-y. PMID: 27821156Free PMC Article

Prognosis

Mistry PK, Lukina E, Ben Turkia H, Shankar SP, Baris H, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Gaemers SJM, Tayag R, Peterschmitt MJ
Am J Hematol 2017 Nov;92(11):1170-1176. Epub 2017 Oct 3 doi: 10.1002/ajh.24877. PMID: 28762527Free PMC Article
Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, Levade T, Astudillo L, Serratrice J, Brassier A, Rose C, Billette de Villemeur T, Berger MG
Int J Mol Sci 2017 Feb 17;18(2) doi: 10.3390/ijms18020441. PMID: 28218669Free PMC Article
Mistry PK, Lopez G, Schiffmann R, Barton NW, Weinreb NJ, Sidransky E
Mol Genet Metab 2017 Jan - Feb;120(1-2):8-21. Epub 2016 Nov 17 doi: 10.1016/j.ymgme.2016.11.006. PMID: 27916601Free PMC Article
Goldblatt J, Fletcher JM, McGill J, Szer J, Wilson M
S Afr Med J 2016 May 25;106(6 Suppl 1):S79-81. PMID: 27245534
Okubo Y, Goto M, Sakakibara H, Terakawa T, Kaneko T, Miyama S
Pediatr Neurol 2014 Dec;51(6):837-9. Epub 2014 Sep 6 doi: 10.1016/j.pediatrneurol.2014.08.029. PMID: 25301225

Clinical prediction guides

Kim YM, Shin DH, Park SB, Cheon CK, Yoo HW
BMC Med Genet 2017 May 15;18(1):55. doi: 10.1186/s12881-017-0403-x. PMID: 28506293Free PMC Article
Ceravolo F, Grisolia M, Sestito S, Falvo F, Moricca MT, Concolino D
J Med Case Rep 2017 Jan 20;11(1):19. doi: 10.1186/s13256-016-1147-5. PMID: 28103924Free PMC Article
El-Beshlawy A, Tylki-Szymanska A, Vellodi A, Belmatoug N, Grabowski GA, Kolodny EH, Batista JL, Cox GF, Mistry PK
Mol Genet Metab 2017 Jan - Feb;120(1-2):47-56. Epub 2016 Dec 6 doi: 10.1016/j.ymgme.2016.12.001. PMID: 28040394
Aflaki E, Borger DK, Moaven N, Stubblefield BK, Rogers SA, Patnaik S, Schoenen FJ, Westbroek W, Zheng W, Sullivan P, Fujiwara H, Sidhu R, Khaliq ZM, Lopez GJ, Goldstein DS, Ory DS, Marugan J, Sidransky E
J Neurosci 2016 Jul 13;36(28):7441-52. doi: 10.1523/JNEUROSCI.0636-16.2016. PMID: 27413154Free PMC Article
Motta I, Filocamo M, Poggiali E, Stroppiano M, Dragani A, Consonni D, Barcellini W, Gaidano G, Facchini L, Specchia G, Cappellini MD; Splenomegaly Gaucher Disease study group.
Eur J Haematol 2016 Apr;96(4):352-9. Epub 2015 Jun 11 doi: 10.1111/ejh.12596. PMID: 26033455

Recent systematic reviews

Regenboog M, van Kuilenburg AB, Verheij J, Swinkels DW, Hollak CE
Blood Rev 2016 Nov;30(6):431-437. Epub 2016 May 27 doi: 10.1016/j.blre.2016.05.003. PMID: 27265538
Zion YC, Pappadopulos E, Wajnrajch M, Rosenbaum H
Orphanet J Rare Dis 2016 Apr 29;11(1):53. doi: 10.1186/s13023-016-0435-x. PMID: 27129405Free PMC Article
Shemesh E, Deroma L, Bembi B, Deegan P, Hollak C, Weinreb NJ, Cox TM
Cochrane Database Syst Rev 2015 Mar 27;(3):CD010324. doi: 10.1002/14651858.CD010324.pub2. PMID: 25812601
Marcucci G, Zimran A, Bembi B, Kanis J, Reginster JY, Rizzoli R, Cooper C, Brandi ML
Calcif Tissue Int 2014 Dec;95(6):477-94. Epub 2014 Nov 7 doi: 10.1007/s00223-014-9923-y. PMID: 25377906
Bennett LL, Mohan D
Ann Pharmacother 2013 Sep;47(9):1182-93. doi: 10.1177/1060028013500469. PMID: 24259734

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