Joel Charrow

Joel Charrow

UNVERIFIED PROFILE

Are you Joel Charrow?   Register this Author

Register author
Joel Charrow

Joel Charrow

Publications by authors named "Joel Charrow"

Are you Joel Charrow?   Register this Author

88Publications

2281Reads

41Profile Views

Lifespan Development: Symptoms Experienced by Individuals with Neurofibromatosis Type 1 Associated Plexiform Neurofibromas from Childhood into Adulthood.

J Clin Psychol Med Settings 2019 Sep;26(3):259-270

Department of Medical Social Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10880-018-9584-5
Publisher Site
http://dx.doi.org/10.1007/s10880-018-9584-5DOI Listing
September 2019

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.

N Engl J Med 2019 07 18;381(1):25-35. Epub 2019 Jun 18.

From Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Parkville, VIC, Australia (R.S.); Guy's and St. Thomas' NHS Foundation Trust, Evelina Children's Hospital, London (M.I.); Baylor College of Medicine, Houston (C.A.B., B.B.); Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago (J.C.); the Medical Genetics Department, Université Paris Descartes-Sorbonne Paris Cité, INSERM Unité Mixte de Recherche 1163, Institute Imagine, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Paris (V.C.-D., K.-H.L.Q.S.); Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance (P.D.), University of California, San Francisco, Benioff Children's Hospital Oakland, Oakland (P.H.), and BioMarin Pharmaceutical, Novato (A.C., K.J., G.S.J., K.L., M.L.C.) - all in California; Vanderbilt University Medical Center, Nashville (J.P., N.O.); BioMarin, London (A.H.L., J.D.); and Johns Hopkins University School of Medicine, Baltimore (J.H.-F.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1813446DOI Listing
July 2019

Patient Reported Outcomes Measurement Information System and Quality of Life in Neurological Disorders Measurement System to Evaluate Quality of Life for Children and Adolescents with Neurofibromatosis Type 1 Associated Plexiform Neurofibroma.

J Pediatr 2019 Mar 6;206:190-196. Epub 2018 Nov 6.

Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL; Division of Academic General, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00223476183143
Publisher Site
http://dx.doi.org/10.1016/j.jpeds.2018.10.019DOI Listing
March 2019

Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine?

Genet Med 2019 02 5;21(2):459-463. Epub 2018 Jun 5.

Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Professor of Pediatrics, Feinberg School of Medicine, Northwestern University, Evanston, Illinois, USA.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41436-018-0070-0
Publisher Site
http://dx.doi.org/10.1038/s41436-018-0070-0DOI Listing
February 2019

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.

J Pediatr 2017 11 17;190:130-135. Epub 2017 Jul 17.

Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL; Division of Laboratory Services, Tennessee Department of Health, Nashville, TN.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2017.06.048DOI Listing
November 2017

Home infusion of intravenous velaglucerase alfa: Experience from pooled clinical studies in 104 patients with type 1 Gaucher disease.

Mol Genet Metab 2017 Jan - Feb;120(1-2):111-115. Epub 2016 Aug 23.

Shaare Zedek Medical Center and Hadassah Medical School, Jerusalem, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2016.08.005DOI Listing
August 2017

Growth Hormone Excess in Children with Optic Pathway Tumors Is a Transient Phenomenon.

Horm Res Paediatr 2016 28;86(1):35-8. Epub 2016 Jun 28.

Division of Endocrinology, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Ill., USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000447326DOI Listing
April 2017

Using a qualitative approach to conceptualize concerns of patients with neurofibromatosis type 1 associated plexiform neurofibromas (pNF) across the lifespan.

Am J Med Genet A 2017 Jan 26;173(1):79-87. Epub 2016 Sep 26.

Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinios.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37987DOI Listing
January 2017

Carrier screening in the era of expanding genetic technology.

Genet Med 2016 12 7;18(12):1214-1217. Epub 2016 Apr 7.

The Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2016.30DOI Listing
December 2016

Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry.

Mol Genet Metab 2016 09 13;119(1-2):151-9. Epub 2016 Jun 13.

Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2016.06.007DOI Listing
September 2016

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

N Engl J Med 2016 Aug;375(6):545-55

From the Division of Medical Genetics, University of Versailles, Paris-Saclay University, Versailles, and Assistance Publique-Hôpitaux de Paris, Paris - both in France (D.P.G.); the Department of Academic Haematology, Royal Free and University College Medical School, London (D.A.H.), Salford Royal NHS Foundation Trust, Salford (A.J.), and University of Sunderland, Sunderland (S.W.) - all in the United Kingdom; the Department of Nephrology, Royal Melbourne Hospital, Parkville, VIC (K. Nicholls), and the Metabolic Clinic, Women's and Children's Hospital, Adelaide, SA (D.B.) - both in Australia; the Clinical Research Division, Hôpital du Sacré-Coeur, Montreal (D.G.B.); Medical Genetics Service, Clinic Hospital of Porto Alegre, Porto Alegre (R.G.), and Hospital das Clínicas Faculdade de Medicina da Universidade de São Paulo-Ribeirão Preto, Ribeirão Preto (C.M.L.) - both in Brazil; the Departments of Human Genetics (W.R.W., S.P.S.) and Ophthalmology (S.P.S.), Emory University School of Medicine, Atlanta; the Dermatology Unit, University of Parma, Parma, Italy (C.F.); the Faculty of Medicine, Department and Laboratory of Pediatric Metabolic Disorders, Gazi University, Ankara, Turkey (F.E.); the Department of Pediatrics, Hospital Alemán, Buenos Aires (H.A.); the Department of Medical Endocrinology, Rigshospital, Copenhagen University Hospital, Copenhagen (U.F.-R.); Infusion Associates, Grand Rapids, MI (K. Nedd); the Faculty of Medicine, Kasr El Ainy Hospital, Cairo (U.S.E.D.); New York Presbyterian Hospital, New York (M.B.); the Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, and Northwestern University Feinberg School of Medicine, Chicago (J. Charrow); the Department of Urology, University of Kansas Medical Center, Kansas City (M.D., A.T.); Children's Hospital of Pittsburgh, Pittsburgh (D.F.); Hospital Miguel Servet, Zaragoza (P.G.), and Fundacio Puigvert, Universidad Autónoma de Barcelona, Barcelona (R.T.) - both in Spain; O & O Alpa

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1510198DOI Listing
August 2016

Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.

Mol Genet Metab 2016 Feb 1;117(2):164-71. Epub 2015 Jun 1.

Department of Medicine/National Centre for Inherited Metabolic Disorders, Mater Misericordiae University Hospital, Dublin, Ireland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2015.05.012DOI Listing
February 2016

Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States.

Mol Genet Metab 2016 Feb 7;117(2):95-103. Epub 2015 Sep 7.

University Research Foundation for Lysosomal Storage Diseases, Inc., 7367 Wexford Terrace, Boca Raton, FL 33433, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2015.09.002DOI Listing
February 2016

Strabismus in patients with neurofibromatosis type 1-associated optic pathway glioma.

J AAPOS 2015 Oct;19(5):422-5

Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Illinois. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaapos.2015.06.003DOI Listing
October 2015

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

View Article

Download full-text PDF

Source
https://clinicforspecialchildren.org/wp-content/uploads/2015
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher disease.

Am J Hematol 2015 Jul;90(7):592-7

Gaucher Clinic, Shaare Zedek Medical Center, affiliated with the Hebrew University-Hadassah Medical School, Jerusalem, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajh.24007DOI Listing
July 2015

Long-term treatment outcomes in Gaucher disease.

Am J Hematol 2015 Jul;90 Suppl 1:S19-24

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajh.24056DOI Listing
July 2015

Genetics professionals' opinions of whole-genome sequencing in the newborn period.

J Genet Couns 2015 Jun 28;24(3):452-63. Epub 2014 Oct 28.

Center for Genetic Medicine, Northwestern University, Chicago, IL, USA,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-014-9779-3DOI Listing
June 2015

Storage and use of Newborn Screening Blood Specimens for Research: Assessing Public Opinion in Illinois.

J Genet Couns 2015 Jun 20;24(3):482-90. Epub 2014 Nov 20.

Fetal and Neonatal Medicine Center, Rush University Medical Center, 1725 W. Harrison St., Suite 308, Chicago, IL, 60612, USA,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-014-9788-2DOI Listing
June 2015

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease.

Neuromuscul Disord 2015 Apr 19;25(4):321-32. Epub 2014 Dec 19.

Duke University Medical Center, Durham, North Carolina, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2014.12.004DOI Listing
April 2015

Masquerading acidosis after cardiopulmonary bypass: a case of propionic acidemia and congenital heart disease.

World J Pediatr Congenit Heart Surg 2015 Apr;6(2):291-4

Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA Division of Cardiology, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA Department of Pathology, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA Division of Critical Care, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/2150135114563939DOI Listing
April 2015

Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome.

Mol Genet Metab 2015 Jan 30;114(1):11-8. Epub 2014 Oct 30.

Department of Anesthesiology & Critical Care, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803-3607, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2014.10.010DOI Listing
January 2015

Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment.

J Inherit Metab Dis 2013 May 14;36(3):543-53. Epub 2012 Sep 14.

University Research Foundation for Lysosomal Storage Diseases, Inc, Northwest Oncology Hematology Associates PA, Coral Springs, FL 33065, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-012-9528-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3648688PMC
May 2013

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa.

Mol Genet Metab 2012 Nov 17;107(3):456-61. Epub 2012 Sep 17.

Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center-University Hospital Sophia Children's Hospital, Dr Molewaterplein 60, 3015 GJ Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://www.neuromuscular.ru/project/www.neuromuscular.ru/fil
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S109671921200356
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2012.09.015DOI Listing
November 2012

Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center's experience.

Genet Med 2012 Mar 5;14(3):342-7. Epub 2012 Jan 5.

Division of Genetics, Birth Defects and Metabolism, Children's Memorial Hospital, Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2011.9DOI Listing
March 2012

Gustatory flushing (auriculotemporal nerve syndrome) in children with neurofibromatosis type 1 and facial plexiform neurofibromas.

J Pediatr 2011 Jun 16;158(6):1034-1034.e1. Epub 2011 Feb 16.

Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00223476100115
Publisher Site
http://dx.doi.org/10.1016/j.jpeds.2010.12.038DOI Listing
June 2011

Growth hormone excess in children with neurofibromatosis type 1-associated and sporadic optic pathway tumors.

J Pediatr 2011 Mar 28;158(3):433-6. Epub 2010 Oct 28.

Division of Endocrinology, Department of Pediatrics, Children's Memorial Hospital, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2010.09.013DOI Listing
March 2011

Fanconi-Bickel syndrome: report of life history and successful pregnancy in an affected patient.

Am J Med Genet A 2011 Feb 13;155A(2):415-7. Epub 2011 Jan 13.

The University of Chicago, Chicago, Illinois, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33822DOI Listing
February 2011

Neurofibromatosis type 1 and high-grade tumors of the central nervous system.

Childs Nerv Syst 2010 May 25;26(5):663-7. Epub 2009 Nov 25.

Center for Cancer and Blood Disorders, Phoenix Children's Hospital, 1919 East Thomas Road Building B, Phoenix, AZ 85016, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-009-1024-2DOI Listing
May 2010

Episodic myoglobinuria in a primary gamma-sarcoglycanopathy.

Neuromuscul Disord 2010 May 30;20(5):337-9. Epub 2010 Mar 30.

Department of Human Genetics, The University of Chicago, Chicago, IL, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2010.02.015DOI Listing
May 2010

Vitamin B12 status, methylmalonic acidemia, and bacterial overgrowth in short bowel syndrome.

J Pediatr Gastroenterol Nutr 2009 Apr;48(4):495-7

Pediatric Gastroenterology, Hepatology, and Nutrition, University of Chicago, Chicago, IL 60637, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPG.0b013e31817f9e5bDOI Listing
April 2009

A 14-year-old boy with pain in hands and feet.

Authors:
Joel Charrow

Pediatr Ann 2009 Apr;38(4):190, 192

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3928/00904481-20090401-01DOI Listing
April 2009

Enzyme replacement therapy for Gaucher disease.

Authors:
Joel Charrow

Expert Opin Biol Ther 2009 Jan;9(1):121-31

Children's Memorial Hospital, Division of Genetics, Birth Defects and Metabolism, Department of Pediatrics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois 60614, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1517/14712590802573395 DOI Listing
January 2009

Neuroimaging findings in children with rare or novel de novo chromosomal anomalies.

Birth Defects Res A Clin Mol Teratol 2008 Apr;82(4):200-10

Northwestern University's Feinberg School of Medicine, Department of Pediatrics, Chicago, Illinois 60611, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdra.20443DOI Listing
April 2008

Documented transient third-degree atrioventricular block and asystole in a child with familial dysautonomia.

Pediatr Cardiol 2008 Jan 13;29(1):202-4. Epub 2007 Sep 13.

Division of Pediatric Cardiology, Schneider Children's Medical Center of Israel, Petah Tikva, and Sackler Faculty of Medicine, Tel Aviv University, 14 Kaplan Street, Petah-Tikva 49202, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00246-007-9057-3DOI Listing
January 2008

Correction of enzyme levels with allogeneic hematopoeitic progenitor cell transplantation in Niemann-Pick type B.

Pediatr Blood Cancer 2007 Dec;49(7):987-9

Children's Memorial Hospital, Hematology/Oncology/Transplant, Chicago, Illinois, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pbc.21300DOI Listing
December 2007

A newborn girl with hypotonia and respiratory failure.

Authors:
Joel Charrow

Pediatr Ann 2007 Dec;36(12):777, 781-2

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3928/0090-4481-20071201-05DOI Listing
December 2007

A 5-year-old girl with developmental delay.

Authors:
Joel Charrow

Pediatr Ann 2007 Sep;36(9):538, 540

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3928/0090-4481-20070901-04DOI Listing
September 2007

Case challenges in genetics.

Authors:
Joel Charrow

Pediatr Ann 2007 May;36(5):252-3

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3928/0090-4481-20070501-02DOI Listing
May 2007

A newborn with multiple congenital anomalies. Trisomy 18.

Authors:
Joel Charrow

Pediatr Ann 2007 May;36(5):263-4

Division of Genetics, Birth Defects, and Metabolism and the Genetics Laboratory, Children's Memorial Hospital, Chicago, IL 60614, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3928/0090-4481-20070501-08DOI Listing
May 2007

Missing fingers and toes. Amnion rupture sequence.

Authors:
Joel Charrow

Pediatr Ann 2007 May;36(5):269-70

Division of Genetics, Birth Defects, and Metabolism and the Genetics Laboratory, Children's Memorial Hospital, Chicago, IL 60614, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3928/0090-4481-20070501-10DOI Listing
May 2007

Different colored eyes. Waardenburg syndrome.

Authors:
Joel Charrow

Pediatr Ann 2007 May;36(5):277-8

Division of Genetics, Birth Defects, and Metabolism and the Genetics Laboratory at Children's Memorial Hospital, Chicago, IL 60614, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3928/0090-4481-20070501-13DOI Listing
May 2007

A 3 year old with obesity and hypotonia. Prader-Willi syndrome.

Authors:
Joel Charrow

Pediatr Ann 2007 May;36(5):284-6

Division of Genetics, Birth Defects,and the Genetics Laboratory, Childrens's Memeorial Hospital, Chicago, IL 60614, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3928/0090-4481-20070501-16DOI Listing
May 2007

Orbital optic nerve gliomas in children with neurofibromatosis type 1.

J AAPOS 2006 Dec;10(6):534-9

Division of Ophthalmology, Children's Memorial Hospital, Chicago, Illinois 60614, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaapos.2006.03.014DOI Listing
December 2006

A 1-year-old girl with "puffy feet".

Authors:
Joel Charrow

Pediatr Ann 2006 Aug;35(8):546-8

Feinberg School of Medicine, Northwestern, University, Chicago, IL, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3928/0090-4481-20060801-05DOI Listing
August 2006

An 11-year-old girl with multiple hyperpigmented macules.

Authors:
Joel Charrow

Pediatr Ann 2006 May;35(5):325, 328

Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3928/0090-4481-20060501-04DOI Listing
May 2006

A 15-month-old boy with macrocephaly.

Authors:
Joel Charrow

Pediatr Ann 2006 Jan;35(1):18, 21

Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3928/0090-4481-20060101-08DOI Listing
January 2006

Guidance on the use of miglustat for treating patients with type 1 Gaucher disease.

Am J Hematol 2005 Nov;80(3):223-9

University Research Foundation for Lysosomal Storage Diseases and Northwest Oncology Hematology Associates PA, Coral Springs, Florida.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajh.20504DOI Listing
November 2005

An 11-day-old boy with lethargy, poor feeding, vomiting. Maple syrup urine disease.

Authors:
Joel Charrow

Pediatr Ann 2005 Oct;34(10):772-4

Feinberg School of Medicine, Northwestern University, Children's Memorial Hospital, Chicago, IL, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3928/0090-4481-20051001-07DOI Listing
October 2005

A 4-year-old boy with fever. Achondroplasia.

Authors:
Joel Charrow

Pediatr Ann 2005 Jul;34(7):518, 520-1

Feinberg School of Medicine, Northwestern University, Children Memorial Hospital, Chicago, IL, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3928/0090-4481-20050701-07DOI Listing
July 2005

Gaucher disease and cancer incidence: a study from the Gaucher Registry.

Blood 2005 Jun 17;105(12):4569-72. Epub 2005 Feb 17.

Tower Hematology Oncology Medical Group, Beverly Hills, CA 90211, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1182/blood-2004-12-4672DOI Listing
June 2005

A 22-month-old boy with slow development.

Authors:
Joel Charrow

Pediatr Ann 2005 Apr;34(4):270, 273

Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3928/0090-4481-20050401-07DOI Listing
April 2005

Ashkenazi Jewish genetic disorders.

Authors:
Joel Charrow

Fam Cancer 2004 ;3(3-4):201-6

Department of Pediatrics, Feinberg School of Medicine, Northwestern University, no. 59, 2300 Children's Plaza, Illinois 60614, USA.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10689-004-9545-z
Publisher Site
http://dx.doi.org/10.1007/s10689-004-9545-zDOI Listing
February 2005

Individualization of long-term enzyme replacement therapy for Gaucher disease.

Genet Med 2005 Feb;7(2):105-10

Human Genetics Program, Hayward Genetics Center, Tulane University Medical School, New Orleans, Louisiana, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.109701.GIM.0000153660.88672.3CDOI Listing
February 2005

A young girl with abnormal hands, symptoms of short stature. Trichorhinophalangeal syndrome.

Authors:
Joel Charrow

Pediatr Ann 2005 Jan;34(1):20, 22

Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3928/0090-4481-20050101-06DOI Listing
January 2005

Neurofibromatosis-1 in childhood.

Adv Dermatol 2004 ;20:75-115

Department of Pediatrics, Feinberg School of Medicine, Northwestern University Chicago, Illinois, USA.

View Article

Download full-text PDF

Source
December 2004

Knowledge without truth: screening for complications of neurofibromatosis type 1 in childhood.

Am J Med Genet A 2004 Jun;127A(3):221-3

Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.20654
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.20654DOI Listing
June 2004

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.

Eur J Pediatr 2004 Feb 16;163(2):58-66. Epub 2003 Dec 16.

Division and Program in Human Genetics, Children's Hospital Research Foundation, Cincinnati, OH 45229-3039, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-003-1362-0DOI Listing
February 2004

Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring.

Eur J Pediatr 2004 Feb 16;163(2):67-75. Epub 2003 Dec 16.

Unidad de Enfermedades Metabólicas, Hospital Infantil Miguel Servet, Po. Isabel la Católica, 350009 Zaragoza, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-003-1363-zDOI Listing
February 2004

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations.

J Pediatr 2004 Jan;144(1):112-20

Division of Genetics, Children's Memorial Hospital and the Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60614, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2003.10.067DOI Listing
January 2004

Optic pathway gliomas in neurofibromatosis type 1: the effect of presenting symptoms on outcome.

Am J Med Genet A 2003 Oct;122A(2):95-9

Division of Pediatric Hematology and Oncology, St. Louis Children's Hospital, St. Louis, Missouri 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.20211DOI Listing
October 2003

Segmental neurofibromatosis in childhood.

Am J Med Genet A 2003 Aug;121A(2):132-5

Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60614, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.20183
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.20183DOI Listing
August 2003