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Zhen Zhao
Smeralda Skenderaj
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Project:
Newborn Screening
Categories:
Observational
Clinical outcomes
Change patient management
13 Publications
found
Outcomes of children with cystic fibrosis screen positive, inconclusive diagnosis/CFTR related metabolic syndrome.
b
Frontiers in pediatrics
January 1, 2023
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Newborn Screening
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Change patient management
Clinical outcomes
Observational
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
b
Journal of inherited metabolic disease
July 1, 2022
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Newborn Screening
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Change patient management
Clinical outcomes
Highlighted
Observational
Benefits of newborn screening and hematopoietic cell transplant in infantile Krabbe disease.
b
Blood advances
May 10, 2022
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Newborn Screening
c
Change patient management
Clinical outcomes
Observational
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
b
Journal of inherited metabolic disease
March 1, 2022
p
Newborn Screening
c
Change patient management
Clinical outcomes
Observational
The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening.
b
Frontiers in genetics
January 1, 2022
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Newborn Screening
c
Change patient management
Clinical outcomes
Observational
Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.
b
Genetics in medicine : official journal of the American College of Medical Genetics
May 1, 2021
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Newborn Screening
c
Change patient management
Clinical outcomes
Observational
Cognitive and Motor Outcome in Patients with Early-Detected Central Congenital Hypothyroidism Compared with Siblings.
b
The Journal of clinical endocrinology and metabolism
March 8, 2021
p
Newborn Screening
c
Change patient management
Clinical outcomes
Observational
Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency.
b
Molecular genetics and metabolism
January 1, 2021
p
Newborn Screening
c
Change patient management
Clinical outcomes
Observational
Newborn Screening for Vitamin B Deficiency in Germany-Strategies, Results, and Public Health Implications.
b
The Journal of pediatrics
January 1, 2020
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Newborn Screening
c
Change patient management
Clinical outcomes
Observational
Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017.
b
Pediatrics
February 1, 2019
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Newborn Screening
c
Change patient management
Clinical outcomes
Highlighted
Observational
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