Yair Anikster

Yair Anikster

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Yair Anikster

Publications by authors named "Yair Anikster"

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Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.

Pediatr Nephrol 2019 Sep 17;34(9):1607-1613. Epub 2019 Apr 17.

Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, USA.

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http://link.springer.com/10.1007/s00467-019-04256-0
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http://dx.doi.org/10.1007/s00467-019-04256-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6660980PMC
September 2019

Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.

Mol Genet Metab 2019 Aug 14. Epub 2019 Aug 14.

Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; The Wohl Institute for Translational Medicine, Sheba Medical Center, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.08.003DOI Listing
August 2019

Phenotype variability in Hajdu-Cheney syndrome.

Eur J Med Genet 2019 Jan 23;62(1):35-38. Epub 2018 Apr 23.

Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.04.015DOI Listing
January 2019

DNAJC12: A molecular chaperone involved in proteostasis, PKU, biogenic amines metabolism and beyond?

Mol Genet Metab 2018 03 12;123(3):285-286. Epub 2018 Feb 12.

Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris 75019, France; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.01.006DOI Listing
March 2018

Reversal of cystoid macular edema in gyrate atrophy patients.

Ophthalmic Genet 2017 12 7;38(6):549-554. Epub 2017 Apr 7.

a Ophthalmology Department , Assaf Harofeh Medical Center , Zerifin , Israel.

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http://dx.doi.org/10.1080/13816810.2017.1301966DOI Listing
December 2017

Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization.

J Pediatr Gastroenterol Nutr 2017 05;64(5):770-776

*Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel †Cincinnati Children's Hospital Medical Center, Cincinnati, OH ‡Cancer Research Center §Institute of Pathology, Sheba Medical Center, Tel Hashomer ||Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv ¶Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.

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http://dx.doi.org/10.1097/MPG.0000000000001424DOI Listing
May 2017

Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature.

Mol Genet Metab Rep 2017 Mar 8;10:5-7. Epub 2016 Dec 8.

Department of Pediatric Intensive Care, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1016/j.ymgmr.2016.11.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5154967PMC
March 2017

A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

J Clin Immunol 2016 11 12;36(8):801-809. Epub 2016 Oct 12.

Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel-Hashomer, Ramat Gan, Israel.

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http://link.springer.com/10.1007/s10875-016-0340-z
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http://dx.doi.org/10.1007/s10875-016-0340-zDOI Listing
November 2016

Griscelli Syndrome Type 3: Two New Cases and Review of the Literature.

Pediatr Dermatol 2015 Nov-Dec;32(6):e245-8. Epub 2015 Sep 4.

Department of Dermatology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.

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http://dx.doi.org/10.1111/pde.12663DOI Listing
September 2016

Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene.

Fetal Pediatr Pathol 2015 16;34(6):400-6. Epub 2015 Oct 16.

c Sackler Faculty of Medicine, Tel-Aviv University , Tel-Aviv , Israel.

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http://www.tandfonline.com/doi/full/10.3109/15513815.2015.10
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http://dx.doi.org/10.3109/15513815.2015.1095261DOI Listing
August 2016

TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.

Eur J Paediatr Neurol 2016 Jan 22;20(1):69-79. Epub 2015 Oct 22.

Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, The Chaim Sheba Med. Ctr., Israel; The Sackler School of Medicine, Tel Aviv University, 69978, Tel Aviv, Israel. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798150017
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http://dx.doi.org/10.1016/j.ejpn.2015.10.003DOI Listing
January 2016

A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred.

Eur J Med Genet 2015 Dec 27;58(12):685-8. Epub 2015 Oct 27.

Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1016/j.ejmg.2015.10.012DOI Listing
December 2015

CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.

J Child Neurol 2015 Nov 20;30(13):1749-56. Epub 2015 Apr 20.

Pediatric Neurology Unit, Edmond and Lily Children's Hospital, The Chaim Sheba Medical Center, Ramat Gan, Israel The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1177/0883073815579708DOI Listing
November 2015

Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep.

Eur J Paediatr Neurol 2015 Nov 9;19(6):733-6. Epub 2015 Jul 9.

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.06.006DOI Listing
November 2015

Devastating recurrent brain ischemic infarctions and retinal disease in pediatric patients with CD59 deficiency.

Eur J Paediatr Neurol 2015 Nov 20;19(6):688-93. Epub 2015 Jul 20.

Department of Medicine B Director, Center for Research in Rheumatology, Hadassah Medical Center, Hebrew University, Jerusalem, Israel. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798150012
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http://dx.doi.org/10.1016/j.ejpn.2015.07.001DOI Listing
November 2015

A human integrin-α3 mutation confers major renal developmental defects.

PLoS One 2014 12;9(3):e90879. Epub 2014 Mar 12.

Pediatric Stem Cell Research Institute, Edmond and Lili Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel; Sheba Centers for Regenerative Medicine and Cancer Research, Sheba Medical Center, Ramat Gan, Israel; Department of Pediatrics and Pediatric Nephrology, Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0090879PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951280PMC
May 2015

Costeff syndrome: clinical features and natural history.

J Neurol 2014 Dec 9;261(12):2275-82. Epub 2014 Sep 9.

Parkinson Disease and Movement Disorders Clinic, Chaim Sheba Medical Center, Tel-Hashomer, Ramat Gan, 52621, Israel,

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http://dx.doi.org/10.1007/s00415-014-7481-xDOI Listing
December 2014

Neonatal hyperpigmentation: diagnosis of familial glucocorticoid deficiency with a novel mutation in the melanocortin-2 receptor gene.

Pediatr Dermatol 2014 Jan-Feb;31(1):e13-7. Epub 2013 Nov 14.

Department of Pediatrics B, Chaim Sheba Medical Center, Ramat Gan, Israel.

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http://dx.doi.org/10.1111/pde.12247DOI Listing
September 2014

Man made disease: clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study.

Mol Genet Metab 2013 12;110 Suppl:S66-70. Epub 2013 Oct 12.

Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192130033
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http://dx.doi.org/10.1016/j.ymgme.2013.10.006DOI Listing
July 2014

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.

Ann Clin Transl Neurol 2014 Jul 19;1(7):462-70. Epub 2014 Jun 19.

Telethon Institute of Genetics and Medicine Naples, Italy ; Department of Translational Medicine, Federico II University of Naples Naples, Italy.

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http://dx.doi.org/10.1002/acn3.73DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184775PMC
July 2014

Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.

Nephron Physiol 2011 18;119(3):p31-9. Epub 2011 Aug 18.

Department of Pediatrics, Talpiot Medical Leadership Program, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1159/000329668DOI Listing
April 2014

Glutaric Aciduria type I and acute renal failure - Coincidence or causality?

Mol Genet Metab Rep 2014 17;1:170-175. Epub 2014 Apr 17.

Pediatric Nephrology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1016/j.ymgmr.2014.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121326PMC
April 2014

The many faces of Glut1 deficiency syndrome.

J Child Neurol 2014 Mar 22;29(3):349-59. Epub 2013 Jan 22.

1Pediatric Neurology Unit, Edmond and Lily Safra Childern's Hospital, Sheba Medical Center, Tel Hashomer, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1177/0883073812471718DOI Listing
March 2014

Bitterness of glucose/galactose: novel mutations in the SLC5A1 gene.

J Pediatr Gastroenterol Nutr 2014 Jan;58(1):57-60

*Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer †Genetics Institute, Assaf Harofeh Medical Center, Zerifin, Israel ‡University of Istanbul, Cerrahpasa Medical Faculty, Department of Pediatrics, Division of Metabolic Diseases, Istanbul, Turkey §Department of Biological Resources Engineering, University of Maryland, College Park ||Pediatric Stem Cell Research Institute, Edmond & Lily Safra Children's Hospital, Sheba Medical Center ¶Pediatric Gastroenterology and Nutrition Unit, Edmond and Lily Safra Children's Hospital.

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http://dx.doi.org/10.1097/MPG.0000000000000114DOI Listing
January 2014

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.

J Inherit Metab Dis 2013 Nov 8;36(6):923-8. Epub 2013 Jan 8.

Nijmegen Centre for Mitochondrial Disorders at the Department of Pediatrics, Institute of Genetic and Metabolic Disease, Nijmegen, The Netherlands,

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http://dx.doi.org/10.1007/s10545-012-9580-0DOI Listing
November 2013

Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapy.

Glycoconj J 2013 Aug 25;30(6):609-18. Epub 2012 Dec 25.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1851 Bld 10, Rm 10C103, Bethesda, MD 20892-1851, USA.

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http://dx.doi.org/10.1007/s10719-012-9459-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3622838PMC
August 2013

Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling.

J Am Soc Nephrol 2013 Mar 21;24(4):550-8. Epub 2013 Mar 21.

Department of Pediatrics, Talpiot Medical Leadership Program, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1681/ASN.2012010097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3609130PMC
March 2013

McArdle disease: a novel mutation in Jewish families from the Caucasus region.

Mol Genet Metab 2012 Jul 23;106(3):379-81. Epub 2012 Apr 23.

Day Hospitalization Unit, Schneider Children's Medical Center of Israel, Petach Tikva 49202, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2012.04.012DOI Listing
July 2012

Estimating the allele frequency of autosomal recessive disorders through mutational records and consanguinity: the Homozygosity Index (HI).

Ann Hum Genet 2012 Mar 21;76(2):159-67. Epub 2011 Dec 21.

Unità Operativa di Genetica Medica, Dipartimento di Scienze Ginecologiche, Ostetriche e Pediatriche, Policlinico Sant'Orsola Malpighi, Università di Bologna, Bologna, Italy.

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http://dx.doi.org/10.1111/j.1469-1809.2011.00693.xDOI Listing
March 2012

Cellular and clinical report of new Griscelli syndrome type III cases.

Pigment Cell Melanoma Res 2012 Jan 3;25(1):47-56. Epub 2011 Oct 3.

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda MD, USA.

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http://dx.doi.org/10.1111/j.1755-148X.2011.00901.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3265394PMC
January 2012

Quantification of human serum procollagen C-proteinase enhancer (hsPCPE) glycopattern.

Clin Chim Acta 2011 Sep 4;412(19-20):1762-6. Epub 2011 May 4.

Metabolic Enzymatic Laboratory, Chaim Sheba Medical Center, Tel Hashomer, Israel.

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http://dx.doi.org/10.1016/j.cca.2011.04.030DOI Listing
September 2011

A safety trial of high dose glyceryl triacetate for Canavan disease.

Mol Genet Metab 2011 Jul 15;103(3):203-6. Epub 2011 Mar 15.

Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2011.03.012DOI Listing
July 2011

The GALT rush: high carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi population.

Mol Genet Metab 2011 Feb 20;102(2):157-60. Epub 2010 Oct 20.

Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2010.10.007DOI Listing
February 2011

Recurrent Fever, arthritis, lymphadenopathy, and hepatosplenomegaly.

Pediatr Infect Dis J 2011 Feb;30(2):182-5

Infectious Diseases Unit, Shaare Zedek Medical Center and Hadassah-Hebrew University Medical School, Jerusalem, Israel.

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http://dx.doi.org/10.1097/INF.0b013e3181f228b0DOI Listing
February 2011

Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan disease.

J Inherit Metab Dis 2010 Jun 13;33(3):195-210. Epub 2010 May 13.

Department of Anatomy, Physiology and Genetics, Neuroscience Program and Molecular and Cell Biology Program, Uniformed Services University of the Health Sciences, Building C, Bethesda, MD 20814, USA.

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http://dx.doi.org/10.1007/s10545-010-9100-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2877317PMC
June 2010

DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients.

J Hum Genet 2010 May 23;55(5):308-13. Epub 2010 Apr 23.

Institute of Gastroenterology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

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http://dx.doi.org/10.1038/jhg.2010.28DOI Listing
May 2010

Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations.

Clin Endocrinol (Oxf) 2010 Apr 8;72(4):448-54. Epub 2009 Jun 8.

Division of Pediatric Endocrinology, E. Wolfson Medical Center, Holon and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1111/j.1365-2265.2009.03652.xDOI Listing
April 2010

Molecular assessment of thymic capacities in patients with Schimke immuno-osseous dysplasia.

Clin Immunol 2009 Dec 30;133(3):375-81. Epub 2009 Sep 30.

Cancer Research Center, Sheba Medical Center, Tel Hashomer and Sackler School of Medicine, Tel Aviv, Israel.

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http://dx.doi.org/10.1016/j.clim.2009.08.017DOI Listing
December 2009

Carbonic anhydrase II deficiency a novel mutation.

Indian Pediatr 2009 Jun;46(6):532-4

Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Aims Ponekkara, PO, Cochin, Kerala, India; and Metabolic Disease Unit, Safra Children Hospital, Sheba Medical Center, Tel Hashomer, Israel.

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June 2009

Different patterns of human serum procollagen C-proteinase enhancer1 (PCPE1).

Clin Chim Acta 2009 May 4;403(1-2):76-80. Epub 2009 Feb 4.

Metabolic Enzymatic Laboratory, Chaim Sheba Medical Center, Tel Hashomer, Israel.

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http://dx.doi.org/10.1016/j.cca.2009.01.024DOI Listing
May 2009

Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.

J Hum Genet 2008 26;53(5):407-18. Epub 2008 Feb 26.

MIGAL, Galilee Technology Center, Human Molecular Genetics and Pharmacogenetics Laboratory, Kiryat Shmona, Israel.

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http://dx.doi.org/10.1007/s10038-008-0264-4DOI Listing
July 2008

Schimke immuno-osseous dysplasia: expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotype.

Pediatr Res 2008 Apr;63(4):398-403

Department of Pediatrics, Laboratory of Regenerative and Developmental Nephrology, Safra Children's Hospital, Sheba Medical Center, 52621, Israel.

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http://www.nature.com/doifinder/10.1203/PDR.0b013e31816721cc
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http://dx.doi.org/10.1203/PDR.0b013e31816721ccDOI Listing
April 2008

Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency.

J Child Neurol 2007 Oct;22(10):1214-21

Magnetic Resonance Imaging Unit and Department of Diagnostic Imaging, Safra Pediatric Hospital, Chaim Sheba Medical Center, Tel Hashomer, Israel.

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http://dx.doi.org/10.1177/0883073807306260DOI Listing
October 2007

Unusual presentation of familial glucocorticoid deficiency with a novel MRAP mutation.

J Clin Endocrinol Metab 2006 Oct 25;91(10):3713-7. Epub 2006 Jul 25.

Pediatric Endocrinology Unit, Division of Pediatrics, Chaim Sheba Medical Center, Tel-Hashomer 52621, Israel.

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http://dx.doi.org/10.1210/jc.2006-0687DOI Listing
October 2006

Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome.

Pediatr Nephrol 2006 Mar 29;21(3):423-6. Epub 2005 Dec 29.

Department of Pediatrics, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.

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http://dx.doi.org/10.1007/s00467-005-2125-0DOI Listing
March 2006

Optic atrophies in metabolic disorders.

Mol Genet Metab 2005 Sep-Oct;86(1-2):51-60. Epub 2005 Sep 27.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.ymgme.2005.07.034DOI Listing
January 2006

Optic neuropathies in inherited metabolic disorders.

Pediatr Endocrinol Rev 2005 Dec;3(2):97-103

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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December 2005

Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.

Am J Med Genet A 2003 Jul;120A(1):28-33

Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, 10 Center Drive, Building 10 Room 10C-103, Bethesda, MD 20892-1851, USA.

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http://dx.doi.org/10.1002/ajmg.a.20024DOI Listing
July 2003

Use of a cDNA microarray to determine molecular mechanisms involved in grey platelet syndrome.

Br J Haematol 2003 Jul;122(1):142-9

Laboratory of Cellular Carcinogenesis and Tumor Promotion, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1046/j.1365-2141.2003.04410.xDOI Listing
July 2003

Natural history of alkaptonuria.

N Engl J Med 2002 Dec;347(26):2111-21

Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Md 20892-1851, USA.

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http://dx.doi.org/10.1056/NEJMoa021736DOI Listing
December 2002

Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A.

Am J Hum Genet 2002 Aug 7;71(2):407-14. Epub 2002 Jun 7.

Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Building 10, 10 Center Drive, Bethesda, MD 20892-1830, USA.

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http://dx.doi.org/10.1086/341606DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379173PMC
August 2002

3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.

Mol Genet Metab 2002 Jul;76(3):201-6

Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, 10 Center Drive, MSC 1830, Building 10, Room 9S-241, Bethesda, MD 20892-1830, USA.

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July 2002

Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.

Pediatr Res 2002 Feb;51(2):150-8

Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1830, USA.

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http://dx.doi.org/10.1203/00006450-200202000-00006DOI Listing
February 2002