Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease

Authors: Biegstraaten, M., Cox, T.M., Belmatoug, N., Berger, M.G., Collin-Histed, T., Vom Dahl, S., Di Rocco, M., Fraga, C., Giona, F., Giraldo, P., Hasanhodzic, M., Hughes, D.A., Iversen, P.O., Kiewiet, A.I., Lukina, E., Machaczka, M., Marinakis, T., Mengel, E., Pastores, G.M., Plöckinger, U., Rosenbaum, H., Serratrice, C., Symeonidis, A., Szer, J., Timmerman, J., Tylki-Szymańska, A., Weisz Hubshman, M., Zafeiriou, D.I., Zimran, A., Hollak, C.E.M.

Source: In Blood Cells, Molecules and Diseases February 2018 68:203-208

Krabbe disease: an overview
International symposium on lysosomal storage diseases

Authors: Pastores, G.M.

Source: ACTA PAEDIATRICA -SUPPLEMENT-. 47(SUPP 1):S75-S84

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCCN074586593&indx=1&recIds=ETOCCN074586593

A bolt from the blue; A case report of an unusual asthma exacerbation

Authors: Moloney, C., Long, A., Pastores, G.M., Plant, B.J., Murphy, D.M.

Source: Respiratory medicine case reports. 29

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100113411146.0x000001&indx=1&recIds=ETOCvdc_100113411146.0x000001

Krabbe disease: Clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards

Authors: Puckett, R.L., Orsini, J.J., Pastores, G.M., Wang, R.Y., Chang, R., Saavedra-Matiz, C.A., Torres, P.A., Zeng, B., Caggana, M., Lorey, F., Abdenur, J.E.

Source: In Molecular Genetics and Metabolism January 2012 105(1):126-131

Type II NKT-T~F~H cells against Gaucher lipids regulate B-cell immunity and inflammation

Authors: Nair, S., Boddupalli, C.S., Verma, R., Liu, J., Yang, R., Pastores, G.M., Mistry, P.K., Dohdapkar, M.V.

Source: OCCUPATIONAL HEALTH AND SAFETY. 83(12):1256-1271

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Eliglustat tartrate: an oral therapeutic option for Gaucher disease type 1

Authors: Pastores, G.M., Hughes, D.

Source: CLINICAL INVESTIGATION. 4(1):45-53

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN344467364&indx=1&recIds=ETOCRN344467364

Clinical Neurogenetics: Neuropathic Lysosomal Storage Disorders
Clinical Neurogenetics

Authors: Pastores, G.M., Maegawa, G.H.B.

Source: NEUROLOGIC CLINICS. 31(4):1051-1072

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN344264306&indx=1&recIds=ETOCRN344264306

Orphan Drug Development

Authors: Pastores, G.M., Gupta, P.

Source: PEDIATRIC ENDOCRINOLOGY REVIEWS. 11(SUPP/1):64-67

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN343403791&indx=1&recIds=ETOCRN343403791

Haematological manifestations and complications of Gaucher disease
MYELOID BIOLOGY

Authors: Hughes, D.A., Pastores, G.M.

Source: CURRENT OPINION IN HEMATOLOGY. 20(1):41-47

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN331025171&indx=1&recIds=ETOCRN331025171

Effects of enzyme replacement therapy in Fabry disease-A comprehensive review of the medical literature

Authors: Lidove, O., West, M.L., Pintos-Morell, G., Reisin, R., Nicholls, K., Figuera, L.E., Parini, R., Carvalho, L.R., Kampmann, C., Pastores, G.M.

Source: GENETICS IN MEDICINE. 12(11):668-679

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN282311676&indx=1&recIds=ETOCRN282311676

Therapeutic goals in the treatment of Fabry disease

Authors: Mehta, A., West, M.L., Pintos-Morell, G., Reisin, R., Nicholls, K., Figuera, L.E., Parini, R., Carvalho, L.R., Kampmann, C., Pastores, G.M.

Source: GENETICS IN MEDICINE. 12(11):713-720

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A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1

Authors: Lukina, E., Watman, N., Arreguin, E.A., Banikazemi, M., Dragosky, M., Iastrebner, M., Rosenbaum, H., Phillips, M., Pastores, G.M., Rosenthal, D.I.

Source: BLOOD -NEW YORK-. 116(6):893-978

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Leukoencephalopathies and Leukodystrophies

Authors: Pastores, G.M.

Source: CONTINUUM -MINNEAPOLIS-. 16(2):102-119

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN270114670&indx=1&recIds=ETOCRN270114670

Recombinant Glucocerebrosidase (Imiglucerase) as a Therapy for Gaucher Disease

Authors: Pastores, G.M.

Source: BIODRUGS -AUCKLAND-. 24(1):41-47

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN265404399&indx=1&recIds=ETOCRN265404399

Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment

Authors: Shapiro, B.E., Pastores, G.M., Gianutsos, J., Luzy, C., Kolodny, E.H.

Source: GENETICS IN MEDICINE. 11(6):425-433

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN253826069&indx=1&recIds=ETOCRN253826069

Variable Expression of a Novel PLP1 Mutation in Members of a Family With Pelizaeus-Merzbacher Disease

Authors: Fattal-Valevski, A., DiMaio, M.S., Hisama, F.M., Hobson, G.M., Davis-Williams, A., Garbern, J.Y., Mahoney, M.J., Kolodny, E.H., Pastores, G.M.

Source: JOURNAL OF CHILD NEUROLOGY. 24(5):618-624

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Goal-oriented therapy with miglustat in Gaucher disease

Authors: Pastores, G.M., Giraldo, P., Cherin, P., Mehta, A.

Source: CURRENT MEDICAL RESEARCH AND OPINION. 25(1):23-38

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN243611438&indx=1&recIds=ETOCRN243611438

Long-term Efficacy and Safety of Laronidase in the Treatment of Mucopolysaccharidosis I

Authors: Clarke, L.A., Wraith, J.E., Beck, M., Kolodny, E.H., Pastores, G.M., Muenzer, J., Rapoport, D.M., Berger, K.I., Sidman, M., Kakkis, E.D.

Source: PEDIATRICS -SPRINGFIELD-. 123(1):229-240

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Fidelity of Gamma-Glutamyl Transferase (GGT) in Differentiating Skeletal Muscle From Liver Damage

Authors: Rosales, X.Q., Chu, M.-L., Shilling, C., Wall, C., Pastores, G.M., Mendell, J.R.

Source: JOURNAL OF CHILD NEUROLOGY. 23(7):748-751

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Laronidase (Aldurazyme®): enzyme replacement therapy for mucopolysaccharidosis type I

Authors: Pastores, G.M.

Source: EXPERT OPINION ON BIOLOGICAL THERAPY. 8(7):1003-1010

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN231627338&indx=1&recIds=ETOCRN231627338