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• 2023

  The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome

  Stafki, S. A., Turner, J., Littel, H. R., Bruels, C. C., Truong, D., Knirsch, U., Stettner, G. M., Graf, U., Berger, W., Kinali, M., Jungbluth, H., Pacak, C. A., Hughes, J., Mirchi, A., Derksen, A., Vincent-Delorme, C., Theil, A. F., Bernard, G., Ellis, D., Fassihi, H., & 4 othersLehmann, A. R., Laugel, V., Mohammed, S. & Kang, P. B., Apr 2023, In: Pediatric Neurology. 141, p. 79-86 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
• 2019

  Late Mortality after Allogeneic Blood or Marrow Transplantation for Inborn Errors of Metabolism: A Report from the Blood or Marrow Transplant Survivor Study-2 (BMTSS-2)

  Wadhwa, A., Chen, Y., Holmqvist, A., Wu, J., Ness, E., Parman, M., Kung, M., Hageman, L., Francisco, L., Braunlin, E., Miller, W., Lund, T., Armenian, S., Arora, M., Orchard, P. & Bhatia, S., Feb 2019, In: Biology of Blood and Marrow Transplantation. 25, 2, p. 328-334 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  6 Scopus citations
• 2017

  Allele-Level HLA Matching Impacts Key Outcomes Following Umbilical Cord Blood Transplantation for Inherited Metabolic Disorders

  Mallhi, K. K., Smith, A. R., DeFor, T. E., Lund, T. C., Orchard, P. J. & Miller, W. P., Jan 1 2017, In: Biology of Blood and Marrow Transplantation. 23, 1, p. 119-125 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  31 Scopus citations
• 2016

  Cerebral Spinal Fluid levels of Cytokines are elevated in Patients with Metachromatic Leukodystrophy

  Thibert, K. A., Raymond, G. V., Tolar, J., Miller, W. P., Orchard, P. J. & Lund, T. C., Apr 15 2016, In: Scientific reports. 6, 24579.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  22 Scopus citations
• 2015

  Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort report

  Boucher, A. A., Miller, W., Shanley, R., Ziegler, R., Lund, T., Raymond, G. & Orchard, P. J., Aug 7 2015, In: Orphanet Journal of Rare Diseases. 10, 1, 313.

  Research output: Contribution to journal › Article › peer-review
  100 Scopus citations
• 2014

  Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: Neuroimaging in the more common or recognizable disorders

  Krishna, S. H., McKinney, A. M. & Lucato, L. T., Apr 2014, In: Seminars in Ultrasound, CT and MRI. 35, 2, p. 160-191 32 p.

  Research output: Contribution to journal › Article › peer-review
  20 Scopus citations
• 2011

  Travmatik beyin hasarı sonrası farkedilen metakromatik lökodistrofi: Bir olgu sunumu

  Translated title of the contribution: Metachromatic leukodystrophy diagnosed after traumatic brain injury: A case reportGüzel, S., Atalay, A., Turhan, N., Benli, Ü. S. & Töre, H. G., 2011, In: Turkiye Fiziksel Tip ve Rehabilitasyon Dergisi. 57, 3, p. 175-177 3 p.

  Research output: Contribution to journal › Article › peer-review
• 2010

  Hematopoietic stem cell transplantation for metabolic storage diseases

  Tolar, J., Scott Baker, K. & Orchard, P. J., Mar 22 2010, In: Cellular Therapy and Transplantation. 2, 7

  Research output: Contribution to journal › Review article › peer-review
  2 Scopus citations

• Metachromatic leukodystrophy: A case of triplets with the late infantile variant and a systematic review of the literature

  Mahmood, A., Berry, J., Wenger, D. A., Escolar, M., Sobeih, M., Raymond, G. & Eichler, F. S., May 2010, In: Journal of Child Neurology. 25, 5, p. 572-580 9 p.

  Research output: Contribution to journal › Review article › peer-review
  34 Scopus citations

• Transplant Outcomes in Leukodystrophies

  Orchard, P. J. & Tolar, J., Jan 2010, In: Seminars in hematology. 47, 1, p. 70-78 9 p.

  Research output: Contribution to journal › Article › peer-review
  55 Scopus citations
• 2008

  Reply to: Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: A case report. Haematologica 2008; 93:e11-13

  Charnas, L., Eichler, F., Kohlschuetter, A., Tolar, J. & Orchard, P. J., May 2008, In: Haematologica. 93, 5, p. e47

  Research output: Contribution to journal › Letter › peer-review
• 2006

  Results of the Cord Blood Transplantation Study (COBLT): Outcomes of unrelated donor umbilical cord blood transplantation in pediatric patients with lysosomal and peroxisomal storage diseases

  Martin, P. L., Carter, S. L., Kernan, N. A., Sahdev, I., Wall, D., Pietryga, D., Wagner, J. E. & Kurtzberg, J., Feb 2006, In: Biology of Blood and Marrow Transplantation. 12, 2, p. 184-194 11 p.

  Research output: Contribution to journal › Article › peer-review
  173 Scopus citations
• 2004

  Multifocal slowing of nerve conduction in metachromatic leukodystrophy

  Cameron, C. L., Kang, P. B., Burns, T. M., Darras, B. T. & Jones, H. R., Apr 2004, In: Muscle and Nerve. 29, 4, p. 531-536 6 p.

  Research output: Contribution to journal › Article › peer-review
  34 Scopus citations
• 2002

  Ganciclovir-resistant cytomegalovirus encephalitis in a bone marrow transplant recipient

  Julin, J. E., Van Burik, J. H., Krivit, W., Webb, C., Holman, C. J., Clark, H. B. & Balfour, H. H., Dec 2002, In: Transplant Infectious Disease. 4, 4, p. 201-206 6 p.

  Research output: Contribution to journal › Article › peer-review
  38 Scopus citations
• 2000

  Measurements from normal umbilical cord blood of four lysosomal enzymatic activities: α-L-iduronidase (Hurler), galactocerebrosidase (globoid cell leukodystrophy), arylsulfatase A (metachromatic leukodystrophy), arylsulfatase B (Maroteaux-Lamy)

  DeGasperi, R., Raghavan, S. S., Gama Sosa, M. A., Kolodny, E. H., Carrier, C., Rubenstein, P., Peters, C., Wagner, J., Kurtzberg, J. & Krivit, W., 2000, In: Bone marrow transplantation. 25, 5, p. 541-544 4 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  15 Scopus citations
• 1999

  Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III

  Krivit, W., Peters, C. & Shapiro, E. G., 1999, In: Current Opinion in Neurology. 12, 2, p. 167-176 10 p.

  Research output: Contribution to journal › Review article › peer-review
  253 Scopus citations

• Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome

  Krivit, W., Aubourg, P., Shapiro, E. & Peters, C., Nov 8 1999, In: Current opinion in hematology. 6, 6, p. 377-382 6 p.

  Research output: Contribution to journal › Article › peer-review
  123 Scopus citations
• 1995

  Microglia: The effector cell for reconstitution of the central nervous system following bone marrow transplantation for lysosomal and peroxisomal storage diseases

  Krivit, W., Sung, J. H., Shapiro, E. G. & Lockman, L. A., 1995, In: Cell transplantation. 4, 4, p. 385-392 8 p.

  Research output: Contribution to journal › Article › peer-review
  188 Scopus citations

• Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation

  Shapiro, E. G., Lockman, L. A., Balthazor, M. & Krivit, W., Jul 1 1995, In: Journal of Inherited Metabolic Disease. 18, 4, p. 413-429 17 p.

  Research output: Contribution to journal › Article › peer-review
  222 Scopus citations

• The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome

  Krivit, W., Lockman, L. A., Watkins, P. A., Hirsch, J. & Shapiro, E. G., Jul 1 1995, In: Journal of Inherited Metabolic Disease. 18, 4, p. 398-412 15 p.

  Research output: Contribution to journal › Article › peer-review
  136 Scopus citations
• 1994

  Characteristics of the dementia in late-onset metachromatic leukodystrophy

  Shapiro, E. G., Lockman, L. A., Knopman, D. & Krivit, W., Apr 1994, In: Neurology. 44, 4, p. 662-665 4 p.

  Research output: Contribution to journal › Article › peer-review
  62 Scopus citations

• Serial MR after bone marrow transplantation in two patients with metachromatic leukodystrophy

  Stillman, A. E., Krivit, W., Shapiro, E., Lockman, L. & Latchaw, R. E., Jan 1 1994, In: American Journal of Neuroradiology. 15, 10, p. 1929-1932 4 p.

  Research output: Contribution to journal › Article › peer-review
  14 Scopus citations
• 1993

  Diagnosis and prevention of lysosomal storage diseases in Russia

  Krasnopolskaya, K. D., Mirenburg, T. V., Aronovich, E. L., Lebedeva, T. V., Odinokova, O. N., Demina, N. A., Kozlova, V. M. & Kuznetsov, M. I., Nov 1 1993, In: Journal of Inherited Metabolic Disease. 16, 6, p. 994-1002 9 p.

  Research output: Contribution to journal › Article › peer-review
  11 Scopus citations
• 1992

  Longitudinal Neurophysiologic Studies in a Patient with Metachromatic Leukodystrophy Following Bone Marrow Transplantation

  Dhuna, A., Toro, C., Torres, F., Kennedy, W. R. & Krivit, W., Oct 1992, In: Archives of Neurology. 49, 10, p. 1088-1092 5 p.

  Research output: Contribution to journal › Article › peer-review
  25 Scopus citations

• Programma profilaktiki nasledstvennykh lizosomnykh bolezneǐ v SSSR.

  Translated title of the contribution: A program of prevention of hereditary lysosomal diseases in the USSRKrasnopol'skaia, K. D., Mirenburg, T. V., Aronovich, E. L., Lebedeva, T. V., Akhunov, V. S., Odinokova, O. N., Chebysheva, M. V., Demina, N. A., Nikiforova, O. K. & Kuznetsov, M. I., Jan 1 1992, In: Vestnik Rossiiskoi akademii meditsinskikh nauk / Rossiiskaia akademiia meditsinskikh nauk. 4, p. 20-24 5 p.

  Research output: Contribution to journal › Article › peer-review

• White matter dysfunction and its neuropsychological correlates: A longitudinal study of a case of metachromatic leukodystrophy treated with bone marrow transplant

  Shapiro, E. G., Lipton, M. E. & Krivit, W., Jan 1 1992, In: Journal of Clinical and Experimental Neuropsychology. 14, 4, p. 610-624 15 p.

  Research output: Contribution to journal › Article › peer-review
  27 Scopus citations
• 1990

  Treatment of late infantile metachromatic leukodystrophy by bone marrow transplantation

  Krivit, W., Shapiro, E., Kennedy, W., Lipton, M., Lockman, L., Smith, S., Summers, C. G., Wenger, D. A., Tsai, M. Y., Ramsay, N. K. C., Kersey, J. H., Yao, J. K. & Kaye, E., Jan 4 1990, In: New England Journal of Medicine. 322, 1, p. 28-32 5 p.

  Research output: Contribution to journal › Article › peer-review
  133 Scopus citations
• 1987

  Prevention of deterioration in metachromatic leukodystrophy by bone marrow transplantation

  Krivit, W., Lipton, M. E., Lockman, L. A., Tsai, M., Dyck, P. J., Smith, S., Ramsay, N. K. & Kersey, J., 1987, In: American Journal of the Medical Sciences. 294, 2, p. 80-85 6 p.

  Research output: Contribution to journal › Article › peer-review
  36 Scopus citations

• Pseudodeficiency of arylsulfatase A: a counseling dilemma

  Baldinger, S., Pierpont, M. E. & Wenger, D. A., Feb 1987, In: Clinical Genetics. 31, 2, p. 70-76 7 p.

  Research output: Contribution to journal › Article › peer-review
  23 Scopus citations