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Miriam Blitzer

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TOP 3
Kirit Pindolia; Megan Jordan; Caiying Guo; Nell Matthews; Donald M Mock; Erin T Strovel; Miriam G Blitzer; Barry Wolf
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Tina M Cowan; Miriam G Blitzer; Barry Wolf
Technical standards and guidelines for the diagnosis of biotinidase deficiency.
T Kasdaglis; Graham W Aberdeen; OZHAN TURAN; Jerome Kopelman; Robert Atlas; C Jenkins; Miriam G Blitzer; Christopher R Harman; Ahmet A Baschat
Placental growth factor in the first trimester: relationship with maternal factors and placental Doppler studies.

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All Publications

2011: Kirit Pindolia; Megan Jordan; Caiying Guo; Nell Matthews; Donald M Mock; Erin T Strovel; Miriam G Blitzer; Barry Wolf
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Molecular genetics and metabolism 2011;102(2):161-9.
2010: Tina M Cowan; Miriam G Blitzer; Barry Wolf
Technical standards and guidelines for the diagnosis of biotinidase deficiency.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(7):464-70.
2010: T Kasdaglis; Graham W Aberdeen; OZHAN TURAN; Jerome Kopelman; Robert Atlas; C Jenkins; Miriam G Blitzer; Christopher R Harman; Ahmet A Baschat
Placental growth factor in the first trimester: relationship with maternal factors and placental Doppler studies.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2010;35(3):280-5.
2010: Ahmet A Baschat; Tania Kasdaglis; Graham W Aberdeen; OZHAN TURAN; Jerome Kopelman; Robert Atlas; Chuka Jenkins; Miriam G Blitzer; Christopher R Harman
First-trimester angiopoietin-2: relationships with maternal and placental characteristics.
American journal of perinatology 2010;27(1):9-14.
2009: Ahmet A Baschat; Tania L Kasdaglis; Graham W Aberdeen; OZHAN TURAN; Jerome Kopelman; Robert Atlas; Chuka Jenkins; Miriam G Blitzer; Christopher R Harman
Serum pentraxin-3 levels at 11 to 14 weeks' gestation: association with maternal and placental characteristics.
American journal of obstetrics and gynecology 2009;201(3):298.e1-6.
2006: Judith A Cooksey; Gaetano Forte; Patricia A Flanagan; Judith Benkendorf; Miriam G Blitzer
The medical genetics workforce: an analysis of clinical geneticist subgroups.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(10):603-14.
2006: Dale Halsey Lea; Janet K Williams; Judith A Cooksey; Patricia A Flanagan; Gaetano Forte; Miriam G Blitzer
U.S. genetics nurses in advanced practice.
Journal of nursing scholarship : an official publication of Sigma Theta Tau International Honor Society of Nursing / Sigma Theta Tau 2006;38(3):213-8.
2005: Judith A Cooksey; Gaetano Forte; Judith Benkendorf; Miriam G Blitzer
The state of the medical geneticist workforce: findings of the 2003 survey of American Board of Medical Genetics certified geneticists.
Genetics in medicine : official journal of the American College of Medical Genetics 2005;7(6):439-43.
2005: Barry Wolf; Kevin P Jensen; Bruce A Barshop; Miriam G Blitzer; Martha D Carlson; David R Goudie; Gulden Huner Gokcay; Mübeccel Demirkol; Tolunay Baykal; Fikri Demir; Sharon Quary; Ling Yu Shih; Helio F Pedro; Tsui-Hua H Chen; Alfred E Slonim
Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.
Human mutation 2005;25(4):413.
2000: Jose Dizon; Miriam G Blitzer; D Rubin; James Coromilas; Constantinos A Costeas; John Kassotis; James A Reiffel
Time dependent changes in duration of ventricular repolarization after AV node ablation: insights into the possible mechanism of postprocedural sudden death.
Pacing and clinical electrophysiology : PACE 2000;23(10 Pt 1):1539-44.
2000: James A Reiffel; Miriam G Blitzer
The actions of ibutilide and class Ic drugs on the slow sodium channel: new insights regarding individual pharmacologic effects elucidated through combination therapies.
Journal of cardiovascular pharmacology and therapeutics 2000;5(3):177-81.
2000: Robert J Desnick; B Korf; Miriam G Blitzer; Robert A. Saul
Summary of the Association of Professors of Human and Medical Genetics Fourth Annual Workshop.
American journal of medical genetics 2000;90(2):169-72.
1999: Devereux N Saller; Jacob A Canick; Miriam G Blitzer; Glenn E Palomaki; Stuart Schwartz; Karin J Blakemore; J E Haddow
Second-trimester maternal serum analyte levels associated with fetal trisomy 13.
Prenatal diagnosis 1999;19(9):813-6.
1998: J M Friedman; Miriam G Blitzer; Louis J Elsas; U Francke; H F Willard
Clinical objectives in medical genetics for undergraduate medical students. Association of Professors of Human Genetics, Clinical Objectives Task Force.
Genetics in medicine : official journal of the American College of Medical Genetics 1998;1(1):54-5.
1998: James A Reiffel; Michael J Reiter; Miriam G Blitzer
Antiarrhythmic drugs and devices for the management of ventricular tachyarrhythmia in ischemic heart disease.
The American journal of cardiology 1998;82(4A):31I-40I.
1998: A Alano; S Almashanu; Jeffrey M Chinsky; PA Costeas; Miriam G Blitzer; Eric A Wulfsberg; TM Cowan
Molecular characterization of a unique patient with epimerase-deficiency galactosaemia.
Journal of inherited metabolic disease 1998;21(4):341-50.
1998: R G Boles; E A Buck; Miriam G Blitzer; M S Platt; T M Cowan; S K Martin; H Yoon; J A Madsen; Miguel Reyes-Mugica; Piero Rinaldo
Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life.
The Journal of pediatrics 1998;132(6):924-33.
1998: John Kassotis; Constantinos A Costeas; Miriam G Blitzer; James A Reiffel
Rhythm management in atrial fibrillation--with a primary emphasis on pharmacologic therapy: Part 3.
Pacing and clinical electrophysiology : PACE 1998;21(5):1133-45.
1998: K Reissner; Nahid Tayebi; Barbara K Stubblefield; V Koprivica; Miriam G Blitzer; Walter M Holleran; T Cowan; S Almashanu; A Maddalena; E M Karson; Ellen Sidransky
Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.
Molecular genetics and metabolism 1998;63(4):281-8.
1998: Constantinos A Costeas; John Kassotis; Miriam G Blitzer; James A Reiffel
Rhythm management in atrial fibrillation--with a primary emphasis on pharmacological therapy: Part 2.
Pacing and clinical electrophysiology : PACE 1998;21(4 Pt 1):742-52.
1998: Miriam G Blitzer; Constantinos A Costeas; John Kassotis; James A Reiffel
Rhythm management in atrial fibrillation--with a primary emphasis on pharmacological therapy: Part 1.
Pacing and clinical electrophysiology : PACE 1998;21(3):590-602.
1997: Barry Wolf; KJ Norrgard; RJ Pomponio; D M Mock; J R McVoy; K Fleischhauer; S Shapiro; Miriam G Blitzer; Jeanne Hymes
Profound biotinidase deficiency in two asymptomatic adults.
American journal of medical genetics 1997;73(1):5-9.
1997: CM Meyers; S Ghori; A E Roberson; Miriam G Blitzer; M M Cohen
46,XY,i(21q) identified by maternal serum screening.
Maryland medical journal (Baltimore, Md. : 1985) 1997;46(2):88-9.
1995: Glenn E Palomaki; James E Haddow; George J Knight; Nicholas J Wald; A Kennard; Jacob A Canick; Devereux N Saller; Miriam G Blitzer; L H Dickerman; R Fisher
Risk-based prenatal screening for trisomy 18 using alpha-fetoprotein, unconjugated oestriol and human chorionic gonadotropin.
Prenatal diagnosis 1995;15(8):713-23.
1994: R G Boles; S K Martin; Miriam G Blitzer; Piero Rinaldo
Biochemical diagnosis of fatty acid oxidation disorders by metabolite analysis of postmortem liver.
Human pathology 1994;25(8):735-41.
1993: G A McDowell; T M Cowan; Miriam G Blitzer; Carol L Greene
Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A: implications for evaluation of new therapies.
American journal of medical genetics 1993;47(7):1092-5.
1993: L J Raffel; T M Cowan; Miriam G Blitzer
Transient neonatal galactosaemia identified by newborn screening.
Journal of inherited metabolic disease 1993;16(5):894-5.
1992: G A McDowell; E H Mules; P Fabacher; E Shapira; Miriam G Blitzer
The presence of two different infantile Tay-Sachs disease mutations in a Cajun population.
American journal of human genetics 1992;51(5):1071-7.
1992: W Allen Hogge; J S Hogge; P T Schnatterly; Chen-Chih Sun; Miriam G Blitzer
Congenital nephrosis: detection of index cases through maternal serum alpha-fetoprotein screening.
American journal of obstetrics and gynecology 1992;167(5):1330-3.
1992: Devereux N Saller; Jacob A Canick; Stuart Schwartz; Miriam G Blitzer
Multiple-marker screening in pregnancies with hydropic and nonhydropic Turner syndrome.
American journal of obstetrics and gynecology 1992;167(4 Pt 1):1021-4.
1992: Miriam G Blitzer; G A McDowell
Tay-Sachs disease as a model for screening inborn errors.
Clinics in laboratory medicine 1992;12(3):463-80.
1992: MARY RIPPLE; Bruce A Goldberger; Y H Caplan; Miriam G Blitzer; Stuart Schwartz
Detection of cocaine and its metabolites in human amniotic fluid.
Journal of analytical toxicology 1992;16(5):328-31.
1991: A P Roop; Joann Boughman; Miriam G Blitzer
Study of the relationship between elevated maternal serum alpha-fetoprotein and adverse pregnancy outcome.
Maryland medical journal (Baltimore, Md. : 1985) 1991;40(9):779-84.
1990: H E Carlson; D B Hyman; Miriam G Blitzer
Evidence for an intracerebral action of phenylalanine in stimulation of prolactin secretion: interaction of large neutral amino acids.
The Journal of clinical endocrinology and metabolism 1990;70(3):814-6.
1990: J R McVoy; H L Levy; M Lawler; M A Schmidt; D D Ebers; P S Hart; D D Pettit; Miriam G Blitzer; Barry Wolf
Partial biotinidase deficiency: clinical and biochemical features.
The Journal of pediatrics 1990;116(1):78-83.
1990: Joann Boughman; J A Astemborski; Miriam G Blitzer
Early onset periodontal disease: a genetics perspective.
Critical reviews in oral biology and medicine : an official publication of the American Association of Oral Biologists 1990;1(2):89-99.
1989: Miriam G Blitzer; Stuart Schwartz; T M Cowan; L J Raffel
Recent advances in genetics.
Maryland medical journal (Baltimore, Md. : 1985) 1989;38(11):917-24.
1989: M M Cohen; Stuart Schwartz; M F Schwartz; Miriam G Blitzer; L J Raffel; C L Mullins-Keene; Chen-Chih Sun; Karin J Blakemore
Antenatal detection of cystic hygroma.
Obstetrical & gynecological survey 1989;44(6):481-90.
1988: Carol L Greene; Miriam G Blitzer; E Shapira
Inborn errors of metabolism and Reye syndrome: differential diagnosis.
The Journal of pediatrics 1988;113(1 Pt 1):156-9.
1988: K Michael Gibson; J Breuer; K Kaiser; William L Nyhan; E E McCoy; P Ferreira; Carol L Greene; Miriam G Blitzer; E Shapira; F Reverte
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients.
Journal of inherited metabolic disease 1988;11(1):76-87.
1988: H Mandel; D Africk; Miriam G Blitzer; E Shapira
The importance of recognizing secondary carnitine deficiency in organic acidaemias: case report in glutaric acidaemia type II.
Journal of inherited metabolic disease 1988;11(4):397-402.
1986: Miriam G Blitzer; J E Bailey-Wilson; E Shapira
Discrimination of heterozygotes for phenylketonuria, persistent hyperphenylalaninemia and controls by phenylalanine loading.
Clinica chimica acta; international journal of clinical chemistry 1986;161(3):347-52.
1986: W N Rosenthal; Miriam G Blitzer; M S Insler
Aqueous amino acid levels in Fuchs' corneal dystrophy.
American journal of ophthalmology 1986;102(5):570-4.
1986: S H Black; M Z Pelias; J B Miller; Miriam G Blitzer; E Shapira
Maroteaux-Lamy syndrome in a large consanguineous kindred: biochemical and immunological studies.
American journal of medical genetics 1986;25(2):273-9.
1986: Miriam G Blitzer; P L Wilkie; E Shapira
Interference of radiopaque diagnostic contrast material (diatrizoate meglumine) in assays of urinary amino acids.
Clinical chemistry 1986;32(3):559.
1985: Miriam G Blitzer; J E Bailey-Wilson; E Shapira
Discrimination of phenylketonurics from persistent hyperphenylalaninemia patients using a simple phenylalanine loading test.
Clinica chimica acta; international journal of clinical chemistry 1985;153(2):137-42.
1985: J K Temple; D W Dunn; Miriam G Blitzer; E Shapira
The "muscular variant" of Pompe disease: clinical, biochemical and histologic characteristics.
American journal of medical genetics 1985;21(3):597-604.
1985: Miriam G Blitzer; M Sutton; J B Miller; E Shapira
A thermolabile variant of alpha-L-fucosidase--clinical and laboratory findings.
American journal of medical genetics 1985;20(3):535-9.
1985: P D Walker; Miriam G Blitzer; E Shapira
Marinesco-Sjögren syndrome: evidence for a lysosomal storage disorder.
Neurology 1985;35(3):415-9.
1984: Miriam G Blitzer; E Shapira
A purified serum glycopeptide from controls and cystic fibrosis patients. III. The association of the ciliary dyskinetic activity with the oligosaccharide component.
Pediatric research 1984;18(6):540-3.
1984: K L Garver; Miriam G Blitzer; G Ibezim; S G Marchese; D L Pegram; A M Hagins; Y J Zhang
Evaluation of inorganic pyrophosphate in amniotic fluid as a mode of prenatal diagnosis of osteogenesis imperfecta.
Prenatal diagnosis 1984;4(2):109-12.
1982: Miriam G Blitzer; E Shapira
A purified serum glycopeptide from controls and cystic fibrosis patients. II. Comparison of their immunologic properties using monoclonal antibodies.
Pediatric research 1982;16(11):938-42.
1982: Miriam G Blitzer; E Shapira
A purified serum glycopeptide from controls and cystic fibrosis patients. I. Comparison of their mucociliary activity on rabbit tracheal explants.
Pediatric research 1982;16(3):203-8.
1982: Miriam G Blitzer; E Shapira
Use of radioimmunoassay for serum trypsin in cystic fibrosis.
Journal of pediatric gastroenterology and nutrition 1982;1(3):289-90.