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Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial

The Lancet (British edition), 2014-07, Vol.384 (9937), p.37-44

2014

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Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial

The American journal of clinical nutrition, 2016-08, Vol.104 (2), p.334-345

2016

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Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness

American journal of human genetics, 2016-12, Vol.99 (6), p.1388-1394

2016

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Familial segregation of a 5q15‐q21.2 deletion associated with facial dysmorphism and speech delay

Clinical case reports, 2019-06, Vol.7 (6), p.1154-1160

2019

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Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community

Molecular genetics and metabolism reports, 2016-09, Vol.8 (C), p.4-7

2016

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Clinical relevance of the discrepancy in phenylalanine concentrations analyzed using tandem mass spectrometry compared with ion-exchange chromatography in phenylketonuria

Molecular genetics and metabolism reports, 2016-03, Vol.6 (C), p.21-26

2016

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Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three‐generation human pedigree

Human mutation, 2017-11, Vol.38 (11), p.1485-1490

2017

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Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency

Journal of neuro-ophthalmology, 2021-03, Vol.41 (1), p.e27-e30

2021

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Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy

American journal of medical genetics. Part A, 2019-06, Vol.179 (6), p.1015-1019

2019

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Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome

American journal of medical genetics. Part A, 2017-10, Vol.173 (10), p.2776-2781

2017

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Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy

Journal of child neurology, 2021-09, Vol.36 (10), p.841-852

2021

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Inborn Errors of Metabolism (Metabolic Disorders)

Pediatrics in review, 2016-01, Vol.37 (1), p.3-17

2016

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Newborn Screening for Inherited Metabolic Disorders: Early Identification and Long-Term Care for Patients in the Plain Community, Wisconsin, 2011-2017

Public health reports (1974), 2019-11, Vol.134 (2S), p.58S-63S

2019

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Volatile anesthesia for a pediatric patient with very long‐chain acyl‐coenzyme A dehydrogenase deficiency: A case report

Pediatric anesthesia, 2018-03, Vol.28 (3), p.296-297

2018

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Phenotype of FOXP2 haploinsufficiency in a mother and son

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.174-181

2012

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Mild clinical presentation in a child with prenatally diagnosed 45,X/47,XX,+18 mosaicism

American journal of medical genetics. Part A, 2009-11, Vol.149A (11), p.2588-2592

2009

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A Case of Congenitally Absent Left Internal Carotid Artery: Vascular Malformations in 22q11.2 Deletion Syndrome

The Cleft palate-craniofacial journal, 2010-05, Vol.47 (3), p.314-317

2010

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The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia

American journal of medical genetics. Part A, 2008-11, Vol.146A (22), p.2885-2890

2008

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Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia

Human genetics, 2009-08, Vol.126 (2), p.341-341

2009

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TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features

Neurology, 2016-07, Vol.87 (1), p.77-85

2016

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Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial12

The American journal of clinical nutrition, 2016-08, Vol.104 (2), p.334-345

2016

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Case 1: Term Infant with Intractable Seizures and Bilateral Hydronephrosis

Neoreviews (Elk Grove Village, Ill.), 2018-05, Vol.19 (5), p.e297-e300

2018

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Phase 1 Trial of Subcutaneous rAvPAL-PEG in Subjects with Phenylketonuria

The Lancet (British edition), 2014-04, Vol.384 (9937), p.37-44

2014

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A case of congenitally absent left internal carotid artery: vascular malformations in 22q11.2 deletion syndrome

The Cleft palate-craniofacial journal, 2010-05, Vol.47 (3), p.314-317

2010

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Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society, 2021, Vol.41 (1), p.e27-e30

2021

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Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial

Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial

Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness

Familial segregation of a 5q15‐q21.2 deletion associated with facial dysmorphism and speech delay

Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community

Clinical relevance of the discrepancy in phenylalanine concentrations analyzed using tandem mass spectrometry compared with ion-exchange chromatography in phenylketonuria

Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three‐generation human pedigree

Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency

Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy

Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome

Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy

Inborn Errors of Metabolism (Metabolic Disorders)

Newborn Screening for Inherited Metabolic Disorders: Early Identification and Long-Term Care for Patients in the Plain Community, Wisconsin, 2011-2017

Volatile anesthesia for a pediatric patient with very long‐chain acyl‐coenzyme A dehydrogenase deficiency: A case report

Phenotype of FOXP2 haploinsufficiency in a mother and son

Mild clinical presentation in a child with prenatally diagnosed 45,X/47,XX,+18 mosaicism

A Case of Congenitally Absent Left Internal Carotid Artery: Vascular Malformations in 22q11.2 Deletion Syndrome

The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features

Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial12

Case 1: Term Infant with Intractable Seizures and Bilateral Hydronephrosis

Phase 1 Trial of Subcutaneous rAvPAL-PEG in Subjects with Phenylketonuria

A case of congenitally absent left internal carotid artery: vascular malformations in 22q11.2 deletion syndrome

Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency

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