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832 FOLINIC ACID (FA) THERAPY IN DIHYDROPTERIDINE REDUCTASE DEFICIENCY (DHPRD)

Pediatric research, 1985-04, Vol.19 (4), p.249-249A

1985

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The ABMS MOC Part III Examination: Value, Concerns, and Alternative Formats

Academic medicine, 2016-11, Vol.91 (11), p.1509-1515

2016

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Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome

Current opinion in pediatrics, 1995-12, Vol.7 (6), p.710-714

1995

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Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: Report of clinical and biochemical findings in four patients and treatment in one patient

American journal of medical genetics, 1994-05, Vol.50 (4), p.347-352

1994

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Accumulation of galactose-1-phosphate in the galactosemic fetus despite maternal milk avoidance

The Journal of pediatrics, 1985-08, Vol.107 (2), p.261-263

1985

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ACMG practice guideline: Genetic evaluation of short stature

Genetics in medicine, 2009-06, Vol.11 (6), p.465-470

2009

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Age- and gender-dependent obesity in individuals with 16p11.2 deletion

Journal of genetics and genomics, 2011-09, Vol.38 (9), p.403-409

2011

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AMINO ACID (AA) AND CSF NEUROTRANSMITTER (NT) PROFILES IN NEONATES WITH GALACTOSEMIA (GAL)

Pediatric research, 1987-04, Vol.21 (4), p.291-291A

1987

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Antenatal Therapy of Smith-Lemli-Opitz Syndrome

Fetal diagnosis and therapy, 1999-05, Vol.14 (3), p.133-137

1999

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Antenatal Therapy of Smith-Lemli-Opitz Syndrome ♦ 719

Pediatric research, 1998-04, Vol.43, p.125-125

1998

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Association of Rapidly Progressive Moyamoya Syndrome With Bevacizumab Treatment for Glioblastoma in a Child With Neurofibromatosis Type 1

Journal of child neurology, 2011-02, Vol.26 (2), p.228-230

2011

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The biology and management of laryngeal neurofibroma

Archives of otolaryngology--head & neck surgery, 2004-12, Vol.130 (12), p.1400

2004

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Brainstem Lesions in Neurofibromatosis Type 1

Neurosurgery, 2007-10, Vol.61 (4), p.762-767

2007

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The call from the newborn screening laboratory: frustration in the afternoon: Common issues and concerns in the newborn nursery, part I

The Pediatric clinics of North America, 2004, Vol.51 (3), p.803-818

2004

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The call from the newborn screening laboratory: frustration in the afternoon

The Pediatric clinics of North America, 2004-06, Vol.51 (3), p.803-818

2004

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Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1

Journal of neurosurgery. Pediatrics, 2013-04, Vol.11 (4), p.410

2013

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Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1: Clinical article

Journal of neurosurgery. Pediatrics, 2013-04, Vol.11 (4), p.410-416

2013

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Cerebral infarction in Menkes’ disease

Pediatric neurology, 2000-11, Vol.23 (5), p.425-428

2000

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Children with segmental neurofibromatosis type 1 are at increased risk for academic and cognitive difficulties

Journal of pediatric neurology, 2010-12, Vol.8 (4), p.343-348

2010

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Cholesterol in childhood: friend or foe?: Commentary on the article by Merkens et al. on page 726

Pediatric research, 2004-11, Vol.56 (5), p.679-681

Irons, Mira B

2004

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Cholesterol Supplementation Enhances Growth of Phallus in Smith-Lemli-Opitz Syndrome † 444

Pediatric research, 1998-04, Vol.43, p.78-78

1998

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Chromosomal microarray testing influences medical management

Genetics in medicine, 2011-09, Vol.13 (9), p.770-776

2011

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Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome

JAMA : the journal of the American Medical Association, 2009-11, Vol.302 (19), p.2111

2009

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Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)

American journal of medical genetics, 1997-01, Vol.68 (3), p.305-310

1997

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832 FOLINIC ACID (FA) THERAPY IN DIHYDROPTERIDINE REDUCTASE DEFICIENCY (DHPRD)

The ABMS MOC Part III Examination: Value, Concerns, and Alternative Formats

Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome

Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: Report of clinical and biochemical findings in four patients and treatment in one patient

Accumulation of galactose-1-phosphate in the galactosemic fetus despite maternal milk avoidance

ACMG practice guideline: Genetic evaluation of short stature

Age- and gender-dependent obesity in individuals with 16p11.2 deletion

AMINO ACID (AA) AND CSF NEUROTRANSMITTER (NT) PROFILES IN NEONATES WITH GALACTOSEMIA (GAL)

Antenatal Therapy of Smith-Lemli-Opitz Syndrome

Antenatal Therapy of Smith-Lemli-Opitz Syndrome ♦ 719

Association of Rapidly Progressive Moyamoya Syndrome With Bevacizumab Treatment for Glioblastoma in a Child With Neurofibromatosis Type 1

The biology and management of laryngeal neurofibroma

Brainstem Lesions in Neurofibromatosis Type 1

The call from the newborn screening laboratory: frustration in the afternoon: Common issues and concerns in the newborn nursery, part I

The call from the newborn screening laboratory: frustration in the afternoon

Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1

Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1: Clinical article

Cerebral infarction in Menkes’ disease

Children with segmental neurofibromatosis type 1 are at increased risk for academic and cognitive difficulties

Cholesterol in childhood: friend or foe?: Commentary on the article by Merkens et al. on page 726

Cholesterol Supplementation Enhances Growth of Phallus in Smith-Lemli-Opitz Syndrome † 444

Chromosomal microarray testing influences medical management

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome

Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)

Clinical genetic testing for patients with autism spectrum disorders

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