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Vladutiu
GD. Quackenbush EJ. Hainline BE. Albers S. Smail DS. Bennett
MJ. Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase
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RM. Ingham CL. Korson MS. Marsden D. Schwartz RC. Seashore MR. Shih
VE. Levy HL. New England Consortium: a model for medical evaluation
of expanded newborn screening with tandem mass spectrometry. [Journal
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Antshel, Kevin
M; Waisbren, Susan E. Timing is everything: Executive functions
in children exposed to elevated levels of phenylalanine. Neuropsychology.
Vol 17(3):458-468, 2003 Jul.
Antshel KM ,
Brewster S, Waisbren SE . Child and parent attributions in chronic
pediatric conditions: phenylketonuria (PKU) as an exemplar. J Child Psychol
Psychiatry. 2004 Mar;45(3):622-30.
Antshel KM, Waisbren SE .
Developmental timing of exposure to elevated levels of phenylalanine is associated
with ADHD symptom expression. J Abnorm Child Psychol. 2003 Dec;31(6):565-74.
Sheetz AH, Goldman PG, Millett K,
Franks JC, McIntyre CL, Carroll CR , Gorak D, Harrison CD, Carrick MA. Guidelines
for managing life-threatening food allergies in Massachusetts schools. J Sch Health. 2004 May;74(5):155-60.
Chace, D. H.,
T. A. Kalas, et al. The application of tandem mass spectrometry to neonatal
screening for inherited disorders of intermediary metabolism. Annu Rev
Genomics Hum Genet 3: 17-45. 2002
Comeau, A. M.,
Eaton ,R. B. Successes of newborn screening programs. Science 295(5552):
44-5. 2002
Comeau AM , Parad RB,
Dorkin HL, Dovey M, Gerstle R, Haver K, Lapey A, O'Sullivan BP, Waltz DA,
Zwerdling RG, Eaton RB . Population-based newborn screening for genetic
disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis
newborn screening model demonstrating increased sensitivity but more carrier
detections. Pediatrics. 2004 Jun;113(6):1573-1581.
Comeau
AM, Larson C, Eaton RB . Integration of new genetic diseases into statewide newborn screening:
New England experience. Am J Med Genet. 2004 Feb 15;125C(1):35-41.
Demmer LA.
Totzkay CM. Zapka JG. An interdisciplinary interclerkship in genetic
testing and ethics. [Evaluation Studies. Journal Article] Academic Medicine.
76(5):538-9, 2001 May.
Demmer LA.
O'Neill MJ. Roberts AE. Clay MC. Knowledge of ethical standards in genetic
testing among medical students, residents, and practicing physicians.
[Letter] JAMA. 284(20):2595-6, 2000 Nov 22-29.
Eaton RB. Comeau
AM. Zytkovicz TH. Larson C. Newborn screening: new developments
in a proven field. Clinical Laboratory Science. 15(4):239-44, 2002 Fall.
Fearing MK, Levy HL .
Expanded newborn screening using tandem mass spectrometry. Adv Pediatr.
2003;50:81-111.
Fearing MK, Marsden D .
Expanded newborn screening. Pediatr Ann. 2003 Aug;32(8):509-15. Marin-Garcia J.
Goldenthal MJ. Filiano JJ. Cardiomyopathy associated with neurologic
disorders and mitochondrial phenotype. Journal of Child Neurology. 17(10):759-65,
2002 Oct.
Filiano, James
J; Goldenthal, Michael J; Rhodes, C. Harker; Marin-Garcia, Jose.
Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism,
and developmental delay: HEADD syndrome. Journal of Child Neurology.
Vol 17(6):435-439, 2002 Jun. Filiano, J. J.,
Bellimer S. G., et al. Tandem mass spectrometry and newborn screening:
pilot data and review Pediatr Neurol 26(3): 201-4. 2002
Van Der Velde L,
Curran AK, Filiano JJ , Darnall RA, Bartlett D Jr,
Leiter JC. Prolongation of the laryngeal chemoreflex after inhibition
of the rostral ventral medulla in piglets: a role in SIDS? J Appl Physiol.
2003 May;94(5):1883-95.
Kadmon PM. Noto
RB. Boney CM. Goodwin G. Gruppuso PA. Thyroid storm in a child
following radioactive iodine (RAI) therapy: a consequence of RAI versus
withdrawal of antithyroid medication. [Journal Article] Journal of Clinical
Endocrinology & Metabolism. 86(5):1865-7, 2001 May.
Skalsky YM. Ajuh
PM. Parker C. Lamond AI. Goodwin G. Cooper CS. PRCC, the commonest
TFE3 fusion partner in papillary renal carcinoma is associated with
pre-mRNA splicing factors. [Journal Article] Oncogene. 20(2):178-87,
2001 Jan 11.
Aoki N. Wall MJ.
Demsar J. Zupan B. Granchi T. Schreiber MA. Holcomb JB. Byrne M. Liscum
KR. Goodwin G. Beck JR. Mattox KL. Predictive model for survival
at the conclusion of a damage control laparotomy. [Journal Article]
American Journal of Surgery. 180(6):540-4; discussion 544-5, 2000 Dec.
Goodwin, G.,
M. E. Msall, et al. Newborn screening: an overview with an update
on recent advances. Curr Probl Pediatr Adolesc Health Care 32(5): 144-72.
2002
Khamzina L. Gruppuso
PA. Wands JR. Insulin signaling through insulin receptor substrate
1 and 2 in normal liver development. Gastroenterology. 125(2):572-85,
2003 Aug.
Phornphutkul C.
Okubo T. Wu K. Harel Z. Tracy TF Jr. Pinar H. Chen S. Gruppuso PA.
Goodwin G. Aromatase p450 expression in a feminizing adrenal
adenoma presenting as isosexual precocious puberty. [Journal Article]
Journal of Clinical Endocrinology & Metabolism. 86(2):649-52, 2001
Feb.
Sticherling C. Tada
H. Greenstein R. Chan CW. Chough SP. Baker RL. Wasmer K. Oral
H. Pelosi F. Knight BP. Strickberger SA. Morady F. Incidence and clinical
significance of inducible atrial tachycardia in patients with atrioventricular
nodal reentrant tachycardia. [Journal Article] Journal ofÊ Cardiovascular
Electrophysiology. 12(5):507-10, 2001.
Boney CM. Sekimoto
H. Gruppuso PA. Frackelton AR Jr. Src family tyrosine kinases
participate in insulin-like growth factor i mitogenic signaling in 3t3-l1
cells. [Journal Article] Cell Growth & Differentiation. 12(7):379-86,
2001 July.
Tseng YT. Kopel
R. Stabila JP. McGonnigal BG. Nguyen TT. Gruppuso PA. Padbury
JF. Beta-adrenergic receptors (betaAR) regulate cardiomyocyte proliferation
during early postnatal life. [Journal Article] FASEB Journal. 15(11):1921-6,
2001 Sep.
Morin MJ. Karr SM.
Faris RA. Gruppuso PA. Developmental variability in expression
and regulation of inducible nitric oxide synthase in rat intestine.
[Journal Article] American Journal of Physiology - Gastrointestinal
& Liver Physiology. 281(2):G552-9, 2001 Aug.
Boney CM. Gruppuso
PA. Faris RA. Frackelton AR Jr. The critical role of Shc in insulin-like
growth factor-I-mediated mitogenesis and differentiation in 3T3-L1 preadipocytes.
[Journal Article] Molecular Endocrinology. 14(6):805-13, 2000 Jun.
Phornphutkul C.
Okubo T. Wu K. Harel Z. Tracy TF Jr. Pinar H. Chen S. Gruppuso PA.
Goodwin G. Aromatase p450 expression in a feminizing adrenal adenoma
presenting as isosexual precocious puberty. [Journal Article] Journal
of Clinical Endocrinology & Metabolism. 86(2):649-52, 2001 Feb.
Awad MM. Enslen
H. Boylan JM. Davis RJ. Gruppuso PA. Growth regulation via p38
mitogen-activated protein kinase in developing liver.[Journal Article]
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Gruppuso PA.
Boylan JM. Vaslet CA. Identification of candidate growth-regulating
genes that are overexpressed in late gestation fetal liver in the rat.
[Journal Article] Biochimica et Biophysica Acta. 1494(3):242-7, 2000
Dec 1.
Awad MM. Sanders
JA. Gruppuso PA. A potential role for p15(Ink4b) and p57(Kip2)
in liver development. [Journal Article] FEBS Letters. 483(2-3):160-4,
2000 Oct 20.
Awad MM. Gruppuso
PA. Cell cycle control during liver development in the rat: evidence
indicating a role for cyclin D1 posttranscriptional regulation. [Journal
Article] Cell Growth & Differentiation. 11(6):325-34, 2000 Jun.
Phornphutkul C.
Frick GP. Goodman HM. Berry SA. Gruppuso PA. Hepatic growth hormone
signaling in the late gestation fetal rat. [Journal Article] Endocrinology.
141(10):3527-33, 2000 Oct.
Phornphutkul C.
Fausto-Sterling A. Gruppuso PA. Gender self-reassignment in an
XY adolescent female born with ambiguous genitalia. [Journal Article]
Pediatrics. 106(1 Pt 1):135-7, 2000 Jul.
Gruppuso PA.
Boylan JM. Hepatic epidermal growth factor-regulated mitogen-activated
protein kinase kinase kinase activity in the rat: lack of identity with
known forms of raf and MEKK. [Journal Article] FEBS Letters. 466(1):200-4,
2000 Jan 21.
Antshel, Kevin
M; Gurian, Elizabeth A; Waisbren, Susan E. Maternal
phenylketonuria: A case study suggesting the use of prenatal psychotherapy
to help control phenylalanine levels. American Journal of Orthopsychiatry.
Vol 72(4) Oct 2002, 577-584.
Stoler JM, Sabry MA, Hanley C , Hoppel CL, Shih
VE . Successful long-term treatment of hepatic carnitine palmitoyltransferase
I deficiency and a novel mutation. J Inherit Metab Dis. 2004;27(5):679-684. Viner-Brown SI.
Kim H. Hollinshead WH. Infant mortality in Rhode Island: a time
trend analysis. Medicine & Health, Rhode Island. 86(1):24-6, 2003
Jan.
Viner-Brown SI.
Cain R. Hollinshead WH. Multiple gestation births in Rhode Island,
1989-1998. [Journal Article] Medicine & Health, Rhode Island. 83(6):189-90,
2000 Jun.
Hollinshead WH.
Vigliani MB. Walsh NE. LeClair CA. Zelano LA. Assessing and responding
to pre/periconception risks--early experience with the Rhode Island
Women's Health Screening & Referral Program. [Journal Article] Medicine
& Health, Rhode Island. 83(5):136-9, 2000 May.
Lin AE. Grossfeld
PD. Hamilton RM. Smoot L. Gripp KW. Proud V. Weksberg R. Wheeler P.
Picker J. Irons M. Zackai E. Marino B. Scott CI Jr. Nicholson
L. Further delineation of cardiac abnormalities in Costello syndrome.
American Journal of Medical Genetics. 111(2):115-29, 2002 Aug 1.
Cooper LL. Hansen
RM. Darras BT. Korson M. Dougherty FE. Shoffner JM. Fulton AB.
Rod photoreceptor function in children with mitochondrial disorders.
Archives of Ophthalmology. 120(8):1055-62, 2002 Aug.
Huang T. Korson
MS. Krauss C. Holmes LB. Four cases with hypoplastic thumbs and
encephaloceles. American Journal of Medical Genetics. 111(2):178-81,
2002 Aug 1.
Kalsner LR. Rohr
FJ. Strauss KA. Korson MS. Levy HL. Tyrosine supplementation
in phenylketonuria: diurnal blood tyrosine levels and presumptive brain
influx of tyrosine and other large neutral amino acids. [Clinical Trial.
Journal Article] Journal of Pediatrics. 139(3):421-7, 2001 Sep.
Korson MS.
Advances in newborn screening for metabolic disorders: what the pediatrician
needs to know. [Review] [12 refs] [Journal Article. Review. Review Literature]
Pediatric Annals. 29(5):294-301, 2000 May.
Hagen T. Korson
MS. Wolfsdorf JI. Urinary lactate excretion to monitor the efficacy
of treatment of type I glycogen storage disease. [Journal Article] Molecular
Genetics & Metabolism. 70(3):189-95, 2000 Jul.
Allard P, Cowell LD, Zytkovicz TH, Korson MS, Ampola MG .
Determination of pheylalanine and tyrosine in dried blood specimens by
ion-exchange chromatography using the Hitachi L-8800 analyzer. Clin Biochem.
2004 Oct;37(10):857-62.
Hill KP, Lukonis CJ, Korson MS ,
Weinstein C, Thall M, Schwartz JT. Neuropsychiatric illness in a patient
with cobalamin G disease, an inherited disorder of vitamin B12 metabolism.
Harv Rev Psychiatry. 2004 Mar-Apr;12(2):116-22.
Prasad C, Nurko S, Borovoy J, Korson MS .
The importance of gut motility in the metabolic control of propionic
acidemia. J Pediatr. 2004 Apr;144(4):532-5.
Yannicelli S, Acosta PB, Velazquez
A, Bock HG, Marriage B, Kurczynski TW, Miller M, Korson M ,
Steiner RD, Rutledge L, Bernstein L, Chinsky J, Galvin-Parton P, Arnold
GL. Improved growth and nutrition status in children with methylmalonic
or propionic acidemia fed an elemental medical food. Mol Genet Metab.
2003 Sep-Oct;80(1-2):181-8. Mitchell ML. Hermos
RJ. Larson CA. Thyroid peroxidase antibodies in dried blood specimens
of newborns. Thyroid. 12(7):609-11, 2002 Jul. Mandl KD. Feit S.
Larson C. Kohane IS. Newborn screening program practices in the
United States: notification, research, and consent. Pediatrics. 109(2):269-73,
2002 Feb.
Zytkovicz TH. Fitzgerald
EF. Marsden D. Larson CA. Shih VE. Johnson DM. Strauss AW. Comeau
AM. Eaton RB. Grady GF. Tandem mass spectrometric analysis for amino,
organic, and fatty acid disorders in newborn dried blood spots: a two-year
summary from the New England Newborn Screening Program. [Journal Article]
Clinical Chemistry. 47(11):1945-55, 2001 November.
Mitchell ML. Hermos
RJ. Larson CA. Palomaki GE. Haddow JE. Prevalence of GAD autoantibodies
in women with gestational diabetes: a retrospective analysis. [Letter]
Diabetes Care. 23(11):1705-6, 2000 Nov.
Mandel SJ. Hermos
RJ. Larson CA. Prigozhin AB. Rojas DA. Mitchell ML. Atypical
hypothyroidism and the very low birthweight infant. [JournalArticle]
Thyroid. 10(8):693-5, 2000 Aug.
Picker JD.
Puga AC. Levy HL. Marsden D. Shih VE. Degirolami U. Ligon
KL. Cederbaum SD. Kern RM. Cox GF. Arginase deficiency with lethal neonatal
expression: evidence for the glutamine hypothesis of cerebral edema.
Journal of Pediatrics. 142(3):349-52, 2003 Mar.
Rohr FJ. Munier
AW. Levy HL. Acceptability of a new modular protein substitute for
the dietary treatment of phenylketonuria. Journal of Inherited Metabolic
Disease. 24(6):623-30, 2001 Nov.
Albers S. Marsden
D. Quackenbush E. Stark AR. Levy HL. Irons M. Detection of
neonatal carnitine palmitoyltransferase II deficiency by expanded newborn
screening with tandem mass spectrometry. [Journal Article] Pediatrics.
107(6):E103, 2001 Jun.
Albers S. Levy
HL. One more thought on sudden infant death syndrome. [letter; comment].
[Comment. Letter] Pediatrics. 107(4):809, 2001Apr.
Levy HL.
Guldberg P. Guttler F. Hanley WB. Matalon R. Rouse BM. Trefz F. Azen
C. Allred EN. de la Cruz F. Koch R. Congenital heart disease in maternal
phenylketonuria: report from the Maternal PKU Collaborative Study. [Clinical
Trial. Journal Article] Pediatric Research. 49(5):636-42, 2001
Kim SZ. Kupke KG.
Ierardi-Curto L. Holme E. Greter J. Tanguay RM. Poudrier J. D'Astous
M. Lettre F. Hahn SH. Levy HL. Hepatocellular carcinoma despite
long-term survival in chronic tyrosinaemia I. [Journal Article] Journal
of Inherited Metabolic Disease. 23(8):791-804, 2000 Dec.
Hunter M. Angelicheva
D. Levy HL. Pueschel SM. Kalaydjieva L. Novel mutations in the
GALK1 gene in patients with galactokinase deficiency.[Journal Article]
Human Mutation. 17(1):77-8, 2001.
Levy HL.
Comments on final intelligence in late treated patients with phenylketonuria.
[Journal Article] European Journal of Pediatrics. 159 Suppl 2:S149,
2000 Oct.
Mudd SH. Jenden
DJ. Capdevila A. Roch M. Levy HL. Wagner C. Isolated hypermethioninemia:
measurements of S-adenosylmethionine and choline. [Journal Article]
Metabolism: Clinical & Experimental. 49(12):1542-7, 2000 Dec.
Varvogli L. Repetto
GM. Waisbren SE. Levy HL. High cognitive outcome in an adolescent
with mut- methylmalonic acidemia. [Review] [23 refs] [Journal Article.
Review. Review of Reported Cases] American Journal of Medical Genetics.
96(2):192-5, 2000 Apr 3.
Tangerman A. Wilcken
B. Levy HL. Boers GH. Mudd SH. Methionine transamination in patients
with homocystinuria due to cystathionine beta-synthase deficiency. [Journal
Article] Metabolism: Clinical & Experimental. 49(8):1071-7, 2000
Aug.
Cataltepe S. van
Marter LJ. Kozakewich H. Wessel DL. Lee PJ. Levy HL. Pulmonary
hypertension associated with nonketotic hyperglycinaemia. [Journal Article]
Journal of Inherited Metabolic Disease. 23(2):137-44, 2000 Mar.
Chamberlin ME. Ubagai
T. Mudd SH. Thomas J. Pao VY. Nguyen TK. Levy HL. Greene C. Freehauf
C. Chou JY. Methionine adenosyltransferase I/III deficiency: novel mutations
and clinical variations. [Journal Article] American Journal of Human
Genetics. 66(2):347-55, 2000 Feb.
Platt LD. Koch R.
Hanley WB. Levy HL. Matalon R. Rouse B. Trefz F. de la Cruz F.
Guttler F. Azen C. Friedman EG. The international study of pregnancy
outcome in women with maternal phenylketonuria: report of a 12-year
study. [Journal Article. Multicenter Study] American Journal of Obstetrics
& Gynecology. 182(2):326-33, 2000 Feb.
Waisbren SE.
Hanley W. Levy HL. Shifrin H. Allred E. Azen C. Chang PN.
Cipcic-Schmidt S. de la Cruz F. Hall R. Matalon R. Nanson J.Rouse B.
Trefz F. Koch R. Outcome at age 4 years in offspring of women with maternal
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Levy, H. L.,
J. E. Vargas, et al. Reproductive fitness in maternal homocystinuria
due to cystathionine beta-synthase deficiency. J Inherit Metab Dis 25(4):
299-314. 2002
Piper MA. Lindenmayer
JM. Lengerich EJ. Pass KA. Brown WG. Crowder WB. Khoury MJ. Baker TG.
Lloyd-Puryear MA. Bryan JL. The role of state public health agencies
in genetics and disease prevention: results of a national survey. [Journal
Article] Public Health Reports. 116(1):22-31, 2001 Jan-Feb.
Albers S. Levy
HL. Irons M. Strauss AW. Marsden D. Compound heterozygosity
in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase
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24(3):417-8, 2001 June.
Levy HL , Yu JJ, Waisbren SE .
Maternal histidinaemia: pregnancies and offspring outcomes. I Inherit
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Koch R, Hanley W, Levy H ,
Matalon K, Matalon R, Rouse B, Trefz F, Guttler F, Azen C, Platt L, Waisbren S ,
Widaman K, Ning J, Friedman EG, de la Cruz F. The Maternal Phenylketonuria
International Study: 1984-2002. Pediatrics. 2003 Dec;112(6 Pt 2):1523-9.
Guttler F, Azen C, Guldberg P, Romstad A, Hanley WB, Levy
HL , Matalon R, Rouse BM, Trefz F, De la Cruz F, Koch R. Impact
of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome.
Pediatrics. 2003 Dec;112(6 Pt 2):1530-3.
Levy
HL, Waisbren SE ,
Guttler F, Hanley WB, Matalon R, Rouse B, Trefz FK, de la Cruz F,
Azen CG, Koch R. Pregnancy experiences in the woman with mild hyperphenylalaninemia.
Pediatrics. 2003 Dec;112(6 Pt 2):1548- 52.
Levy HL .
Historical background for the maternal PKU syndrome. Pediatrics. 2003
Dec;112 (6 Pt 2):1516-8.
Mudd SH, Tangerman A, Stabler SP, Allen RH, Wagner C, Zeisel SH, Levy
HL . Maternal methionine adenosyltransferase I/III deficiency:
reproductive outcomes in a woman with four preganancies. J Inherit Metab
Dis. 2003;26(5):443-58.
Levy HL .
Lessons from the past - looking to the
future. Newborn Screening. Pediatr Ann. 2003 Aug;32(8):505-8.
Toone JR, Applegarth DA, Levy HL ,
Coulter-Mackie MB , Lee G. Molecular genetic and potential biochemical
characteristics of patients with T-protein deficiency as a cause of glycine
encephalopathy (NKH). Mol Genet Metab. 2003 Aug;79(4):272-80. Lee
C. Murray MF. Miron PM. Marsden D. Irons M. Wilkins-Haug
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Article] Lancet. 357(9264):1240, 2001 Apr 21.
Marsden D, Larson CA .
Emerging role for tandem mass spectrometry in detecting congenital adrenal
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Landry ML. Comparison of SmartCycler real-time reverse transcription-PCR
assay in a public health laboratory with assays in a medical center for
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Klein RZ. Sargent JD. Meter RA. Haddow JE. Waisbren SE. Faix
JD. Iodine sufficiency and measurements of thyroid function in maternal
hypothyroidism. Clinical Endocrinology. 58(5):612-6, 2003 May.
Moeschler JB.
Mohandas TK. Hawk AB. Noll WW. Estimate of prevalence of proximal 15q
duplication syndrome. American Journal of Medical Genetics. 111(4):440-2,
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Moseley, K.,
R. Koch, et al. Lipid status and long-chain polyunsaturated fatty acid
concentrations in adults and adolescents with phenylketonuria on phenylalanine-restricted
diet. J Inherit Metab Dis 25(1): 56-64. 2002
Leonard H. Fyfe
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2000 June
Msall, M. E.
Tools for measuring daily activities in children: promoting independence
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2002
Msall, M. E.
and M. R. Tremont. Measuring functional outcomes after prematurity:
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Dobrowolski SF.
Banas RA. Suzow JG. Berkley M. Naylor EW. Analysis of common
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Feb.
Dobrowolski SF.
Angeletti J. Banas RA. Naylor EW. Real time PCR assays to detect
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Historical aspects of medical genetics. Am J Med Genet 115(2): 73-4.
2002
Peipert, Joyce.
The Down Syndrome Nutrition Handbook. Journal of Developmental &
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WE. Peterschmitt MJ. Irons M. Somers MJ. Utility of hemodialysis
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Wang SJ. Middleton
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The demands of biochemical genetic disorders: a survey of mothers of
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Pharmacogenomics: an evolving paradigm for drug therapy. MEDSURG Nursing.
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